UniProtKB - P10275 (ANDR_HUMAN)
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- BLAST>sp|P10275|ANDR_HUMAN Androgen receptor OS=Homo sapiens GN=AR PE=1 SV=3 MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQ QQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQ SALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSAD LKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAG KSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQ SRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAA GPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRL ETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRN DCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKL TVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWA KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEII SVQVPKILSGKVKPIYFHTQ
- Align
Androgen receptor
AR
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.34"The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity."
Hofman K., Swinnen J.V., Claessens F., Verhoeven G., Heyns W.
J. Mol. Endocrinol. 31:583-596(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH RBAK. - Ref.47"ZIP kinase plays a crucial role in androgen receptor-mediated transcription."
Leister P., Felten A., Chasan A.I., Scheidtmann K.H.
Oncogene 27:3292-3300(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH ZIPK/DAPK3. - Ref.49"Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination."
Xu K., Shimelis H., Linn D.E., Jiang R., Yang X., Sun F., Guo Z., Chen H., Li W., Chen H., Kong X., Melamed J., Fang S., Xiao Z., Veenstra T.D., Qiu Y.
Cancer Cell 15:270-282(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, POLYUBIQUITINATION AT LYS-846 AND LYS-848 BY RNF6, MUTAGENESIS OF LYS-846 AND LYS-848, INTERACTION WITH RNF14 AND RNF6, SUBCELLULAR LOCATION. - Ref.50"CDK9 regulates AR promoter selectivity and cell growth through serine 81 phosphorylation."
Gordon V., Bhadel S., Wunderlich W., Zhang J., Ficarro S.B., Mollah S.A., Shabanowitz J., Hunt D.F., Xenarios I., Hahn W.C., Conaway M., Carey M.F., Gioeli D.
Mol. Endocrinol. 24:2267-2280(2010) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN AR KINASE, PHOSPHORYLATION AT SER-83 BY CDK9, MUTAGENESIS OF SER-83, INTERACTION WITH CDK9. - Ref.62"The molecular mechanisms of coactivator utilization in ligand-dependent transactivation by the androgen receptor."
Estebanez-Perpina E., Moore J.M.R., Mar E., Delgado-Rodrigues E., Nguyen P., Baxter J.D., Buehrer B.M., Webb P., Fletterick R.J., Guy R.K.
J. Biol. Chem. 280:8060-8068(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.66 ANGSTROMS) OF 670-920 IN COMPLEXES WITH DIHYDROTESTOSTERONE AND NCOA1; NCOA2; NCOA3 AND NCOA4, FUNCTION, INTERACTION WITH NCOA1; NCOA2; NCOA3 AND NCOA4, MUTAGENESIS OF LYS-721 AND GLU-898. - Ref.67"Modulation of androgen receptor activation function 2 by testosterone and dihydrotestosterone."
Askew E.B., Gampe R.T. Jr., Stanley T.B., Faggart J.L., Wilson E.M.
J. Biol. Chem. 282:25801-25816(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 663-919 OF WILD-TYPE AND MUTANT TYR-875 IN COMPLEX WITH TESTOSTERONE AND NCOA2, ACTIVATION BY THE N-TERMINAL MODULATING DOMAIN, INTERACTION WITH NCOA2 AND MAGEA11, FUNCTION, MUTAGENESIS OF LYS-721 AND GLU-898, CHARACTERIZATION OF VARIANT PROSTATE CANCER TYR-875. - Ref.69"A surface on the androgen receptor that allosterically regulates coactivator binding."
Estebanez-Perpina E., Arnold L.A., Nguyen P., Rodrigues E.D., Mar E., Bateman R., Pallai P., Shokat K.M., Baxter J.D., Guy R.K., Webb P., Fletterick R.J.
Proc. Natl. Acad. Sci. U.S.A. 104:16074-16079(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.76 ANGSTROMS) OF 670-920 IN COMPLEXES WITH SYNTHETIC LIGANDS, FUNCTION, INTERACTION WITH NCOA2.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
Miscellaneous
<p>This subsection of the ‘Function’ section describes an enzyme regulatory mechanism and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/enzyme_regulation' target='_top'>More...</a></p>Enzyme regulationi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.52"Effect of Ack1 tyrosine kinase inhibitor on ligand-independent androgen receptor activity."
Mahajan K., Challa S., Coppola D., Lawrence H., Luo Y., Gevariya H., Zhu W., Chen Y.A., Lawrence N.J., Mahajan N.P.
Prostate 70:1274-1285(2010) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT TYR-269, ENZYME REGULATION.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 706 | Androgen | 1 | |
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 753 | Androgen | 1 | |
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 878 | Androgen | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Function’ section specifies the position and type of each <span class="caps">DNA</span>-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi | 560 – 632 | Nuclear receptorPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi Add BLAST | 73 | |
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 560 – 580 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi Add BLAST | 21 | |
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 596 – 620 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi Add BLAST | 25 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- androgen binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- androgen receptor activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- ATPase binding Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- beta-catenin binding Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- chromatin binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- DNA binding Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- enzyme binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- POU domain binding Source: Ensembl
- protein dimerization activity Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- receptor binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- RNA polymerase II transcription factor binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- steroid binding Source: UniProtKB-KW
- transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: NTNU_SB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- transcription factor activity, sequence-specific DNA binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- transcription factor binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- transcription regulatory region DNA binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- zinc ion binding Source: InterPro
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- activation of prostate induction by androgen receptor signaling pathway Source: Ensembl
- androgen receptor signaling pathway Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- animal organ formation Source: Ensembl
- cell-cell signaling Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- cell growth Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- cell proliferation Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- cellular response to steroid hormone stimulus Source: CAFA <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- cellular response to testosterone stimulus Source: Ensembl
- epithelial cell differentiation involved in prostate gland development Source: Ensembl
- epithelial cell morphogenesis Source: Ensembl
- intracellular receptor signaling pathway Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- in utero embryonic development Source: Ensembl
- lateral sprouting involved in mammary gland duct morphogenesis Source: Ensembl
- Leydig cell differentiation Source: Ensembl
- male genitalia morphogenesis Source: Ensembl
- male somatic sex determination Source: Ensembl
- mammary gland alveolus development Source: Ensembl
- morphogenesis of an epithelial fold Source: Ensembl
- multicellular organism growth Source: Ensembl
- negative regulation of cell proliferation Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- negative regulation of epithelial cell proliferation Source: Ensembl
- negative regulation of extrinsic apoptotic signaling pathway Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- negative regulation of integrin biosynthetic process Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- negative regulation of transcription from RNA polymerase II promoter Source: CAFA <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of cell differentiation Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of cell proliferation Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of epithelial cell proliferation involved in prostate gland development Source: Ensembl
- positive regulation of gene expression Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
- positive regulation of integrin biosynthetic process Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of intracellular estrogen receptor signaling pathway Source: Ensembl
- positive regulation of MAPK cascade Source: Ensembl
- positive regulation of NF-kappaB transcription factor activity Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of phosphorylation Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of transcription, DNA-templated Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of transcription from RNA polymerase III promoter Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- prostate gland development Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- prostate gland epithelium morphogenesis Source: Ensembl
- prostate gland growth Source: Ensembl
- protein deubiquitination Source: Reactome
- protein oligomerization Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- regulation of catalytic activity Source: Ensembl
- regulation of developmental growth Source: Ensembl
- regulation of establishment of protein localization to plasma membrane Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- regulation of systemic arterial blood pressure Source: Ensembl
- seminiferous tubule development Source: Ensembl
- sex differentiation Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- signal transduction Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- single fertilization Source: Ensembl
- spermatogenesis Source: Ensembl
- tertiary branching involved in mammary gland duct morphogenesis Source: Ensembl
- transcription, DNA-templated Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- transcription initiation from RNA polymerase II promoter Source: Reactome
- transport Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
Molecular function | Activator, DNA-binding, Receptor |
Biological process | Transcription, Transcription regulation |
Ligand | Lipid-binding, Metal-binding, Steroid-binding, Zinc |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-3371497. HSP90 chaperone cycle for steroid hormone receptors (SHR). R-HSA-383280. Nuclear Receptor transcription pathway. R-HSA-5625886. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. R-HSA-5689880. Ub-specific processing proteases. |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | P10275. |
SIGNOR Signaling Network Open Resource More...SIGNORi | P10275. |
Chemistry databases
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000001553. |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
<p>This subsection of the ‘Names and Taxonomy’ section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Androgen receptorAlternative name(s): Dihydrotestosterone receptor Nuclear receptor subfamily 3 group C member 4 |
<p>This subsection of the ‘Names and taxonomy’ section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:AR Synonyms:DHTR, NR3C4 |
<p>This subsection of the ‘Names and taxonomy’ section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
<p>This subsection of the ‘Names and taxonomy’ section shows the unique identifier assigned by the <span class="caps">NCBI</span> to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
<p>This subsection of the ‘Names and taxonomy’ section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
<p>This subsection of the “Names and Taxonomy” section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
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Organism-specific databases
Human Gene Nomenclature Database More...HGNCi | HGNC:644. AR. |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
- Nucleus 5 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.7"Androgen receptor function is modulated by the tissue-specific AR45 variant."
Ahrens-Fath I., Politz O., Geserick C., Haendler B.
FEBS J. 272:74-84(2005) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION. - Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3). - Ref.33"The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway."
Rigas A.C., Ozanne D.M., Neal D.E., Robson C.N.
J. Biol. Chem. 278:46087-46093(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RACK1, SUBCELLULAR LOCATION. - Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION. - Ref.49"Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination."
Xu K., Shimelis H., Linn D.E., Jiang R., Yang X., Sun F., Guo Z., Chen H., Li W., Chen H., Kong X., Melamed J., Fang S., Xiao Z., Veenstra T.D., Qiu Y.
Cancer Cell 15:270-282(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, POLYUBIQUITINATION AT LYS-846 AND LYS-848 BY RNF6, MUTAGENESIS OF LYS-846 AND LYS-848, INTERACTION WITH RNF14 AND RNF6, SUBCELLULAR LOCATION.
- Cytoplasm 3 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3). - Ref.33"The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway."
Rigas A.C., Ozanne D.M., Neal D.E., Robson C.N.
J. Biol. Chem. 278:46087-46093(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RACK1, SUBCELLULAR LOCATION. - Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION.
- Ref.33"The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway."
Rigas A.C., Ozanne D.M., Neal D.E., Robson C.N.
J. Biol. Chem. 278:46087-46093(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RACK1, SUBCELLULAR LOCATION. - Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION.
Note: Predominantly cytoplasmic in unligated form but translocates to the nucleus upon ligand-binding. Can also translocate to the nucleus in unligated form in the presence of RACK1.2 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti
- cytoplasm Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- cytosol Source: Reactome
- nuclear chromatin Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- nuclear speck Source: CAFA <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- plasma membrane Source: Ensembl
- protein complex Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Cytoplasm, Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Androgen insensitivity syndrome (AIS)74 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.4"Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity."
Lubahn D.B., Brown T.R., Simental J.A., Higgs H.N., Migeon C.J., Wilson E.M., French F.S.
Proc. Natl. Acad. Sci. U.S.A. 86:9534-9538(1989) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT AIS MET-867. - Ref.17"A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance."
Mowszowicz I., Lee H.-J., Chen H.-T., Mestayer C., Portois M.-C., Cabrol S., Mauvais-Jarvis P., Chang C.
Mol. Endocrinol. 7:861-869(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 558-625 (ISOFORMS 1/2), VARIANT AIS HIS-616. - Ref.19"Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics."
Ris-Stalpers C., Trifiro M.A., Kuiper G.G.J.M., Jenster G., Romalo G., Sai T., van Rooij H.C.J., Kaufman M., Rosenfield R.L., Liao S., Schweikert H.-U., Trapman J., Pinsky L., Brinkmann A.O.
Mol. Endocrinol. 5:1562-1569(1991) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 630-724, VARIANTS AIS ASN-696 AND HIS-696. - Ref.63"Structural basis for accommodation of nonsteroidal ligands in the androgen receptor."
Bohl C.E., Miller D.D., Chen J., Bell C.E., Dalton J.T.
J. Biol. Chem. 280:37747-37754(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 665-920 IN COMPLEXES WITH NONSTEROIDAL LIGANDS, MUTAGENESIS OF TRP-742, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-878, CHARACTERIZATION OF VARIANT AIS THR-896. - Ref.71"Molecular genetics of human androgen insensitivity."
Brown T.R., Scherer P.A., Chang Y.-T., Migeon C.J., Ghirri P., Murono K., Zhou Z.
Eur. J. Pediatr. 152 Suppl. 2:S62-S69(1993) [PubMed] [Europe PMC] [Abstract]Cited for: REVIEW ON VARIANTS AIS. - Ref.78"Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity."
Brown T.R., Lubahn D.B., Wilson E.M., French F.S., Migeon C.J., Corfen J.L.
Mol. Endocrinol. 4:1759-1772(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-775; GLN-832 AND MET-867. - Ref.80"A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance."
Marcelli M., Zoppi S., Grino P.B., Griffin J.E., Wilson J.D., McPhaul M.J.
J. Clin. Invest. 87:1123-1126(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PRO-618. - Ref.83"Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes."
Prior L., Bordet S., Trifiro M.A., Mhatre A., Kaufman M., Pinsky L., Wrogemann K., Belsham D.D., Pereira F., Greenberg C.R., Trapman J., Brinkmann A.O., Chang C., Liao S.
Am. J. Hum. Genet. 51:143-155(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-775 AND HIS-775. - Ref.85"A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome."
Sweet C.R., Behzadian M.A., McDonough P.G.
Fertil. Steril. 58:703-707(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS THR-766. - Ref.86"Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)."
Jakubiczka S., Werder E.A., Wieacker P.
Hum. Genet. 90:311-312(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-750. - Ref.87"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome."
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.88"A single amino acid substitution (Met-786-->Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome."
Nakao R., Haji M., Yanase T., Ogo A., Takayanagi R., Katsube T., Fukumaki Y., Nawata H.
J. Clin. Endocrinol. Metab. 74:1152-1157(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-788. - Ref.89"Immunoreactive androgen receptor expression in subjects with androgen resistance."
Wilson C.M., Griffin J.E., Wilson J.D., Marcelli M., Zoppi S., McPhaul M.J.
J. Clin. Endocrinol. Metab. 75:1474-1478(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ARG-742 AND CYS-835. - Ref.90"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene."
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.92"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance."
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS TYR-560 AND ARG-577, VARIANTS PAIS GLY-598 AND PRO-618. - Ref.93"Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique."
De Bellis A., Quigley C.A., Cariello N.F., el-Awady M.K., Sar M., Lane M.V., Wilson E.M., French F.S.
Mol. Endocrinol. 6:1909-1920(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS SER-706; VAL-750; PHE-760; HIS-775; CYS-856 AND GLY-865. - Ref.97"A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome."
Lumbroso S., Lobaccaro J.-M., Belon C., Martin D., Chaussain J.-L., Sultan C.
Fertil. Steril. 60:814-819(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-582. - Ref.98"An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome."
Lobaccaro J.-M., Lumbroso S., Ktari R., Dumas R., Sultan C.
Hum. Mol. Genet. 2:1041-1043(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-755. - Ref.100"A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro."
Adeyemo O., Kallio P.J., Palvimo J.J., Kontula K., Jaenne O.A.
Hum. Mol. Genet. 2:1809-1812(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ARG-808. - Ref.102"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy."
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS LYS-682 AND THR-843, VARIANTS PAIS HIS-841 AND LEU-867. - Ref.104"Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism."
Lobaccaro J.-M., Lumbroso S., Berta P., Chaussain J.-L., Sultan C.
J. Steroid Biochem. Mol. Biol. 44:211-216(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-744. - Ref.106"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes."
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS MET-867, VARIANT PAIS LEU-867. - Ref.108"Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114)."
Lobaccaro J.-M., Lumbroso S., Belon C., Chaussain J.L., Toublanc J.E., Leheup B., Sultan C.
Pediatr. Res. Suppl. 33:S22-S22(1993)Cited for: VARIANTS AIS PHE-582; VAL-744; VAL-755; GLU-768 AND CYS-856. - Ref.117"Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor."
Beitel L.K., Prior L., Vasiliou D.M., Gottlieb B., Kaufman M., Lumbroso R., Alvarado C., McGillivray B., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 3:21-27(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS PHE-583 DEL; ARG-616 DEL AND HIS-616. - Ref.118"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis."
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772, VARIANT AIS TRP-780. - Ref.119"Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor."
Baldazzi L., Baroncini C., Pirazzoli P., Balsamo A., Capelli M., Marchetti G., Bernardi F., Cacciari E.
Hum. Mol. Genet. 3:1169-1170(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-602. - Ref.121"An androgen receptor mutation causing androgen resistance in undervirilized male syndrome."
Tsukada T., Inoue M., Tachibana S., Nakai Y., Takebe H.
J. Clin. Endocrinol. Metab. 79:1202-1207(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-791. - Ref.122"Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance."
Beitel L.K., Kazemi-Esfarjani P., Kaufman M., Lumbroso R., DiGeorge A.M., Killinger D.W., Trifiro M.A., Pinsky L.
J. Clin. Invest. 94:546-554(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-841 AND HIS-841. - Ref.123"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex."
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.124"Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene."
Yong E.L., Ng S.C., Roy A.C., Yun G., Ratnam S.S.
Lancet 344:826-827(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS LYS-728. - Ref.125"A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity."
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS HIS-616 AND LEU-765, VARIANTS PAIS VAL-743 AND THR-746. - Ref.126"A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form."
Imai A., Ohno T., Iida K., Ohsuye K., Okano Y., Tamaya T.
Ann. Clin. Biochem. 32:482-486(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS HIS-841. - Ref.128"Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene."
Davies H.R., Hughes I.A., Patterson M.N.
Clin. Endocrinol. (Oxf.) 43:69-77(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-882. - Ref.129"Androgen receptor defects: historical, clinical, and molecular perspectives."
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS SER-706 AND HIS-764, VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799. - Ref.130"Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families."
Shkolny D.L., Brown T.R., Punnett H.H., Kaufman M., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 4:515-521(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS LEU-832 AND GLN-832. - Ref.131"Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred."
Belsham D.D., Pereira F., Greenberg C.R., Liao S., Wrogemann K.
Hum. Mutat. 5:28-33(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PRO-678. - Ref.132"Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain."
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS CYS-764, VARIANTS AIS TRP-780; VAL-808 AND CYS-856. - Ref.138"The clinical and molecular spectrum of androgen insensitivity syndromes."
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
Am. J. Med. Genet. 63:218-222(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS AND PAIS. - Ref.140"Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene."
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856, VARIANT AIS MET-867. - Ref.141"Rapid detection of a mutation hot-spot in the human androgen receptor."
Malmgren H., Gustavsson J., Tuvemo T., Dahl N.
Clin. Genet. 50:202-205(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS CYS-856. - Ref.144"A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance."
Lumbroso S., Lobaccaro J.-M., Georget V., Leger J., Poujol N., Terouanne B., Evain-Brion D., Czernichow P., Sultan C.
J. Clin. Endocrinol. Metab. 81:1984-1988(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ARG-708. - Ref.145"Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene."
Rodien P., Mebarki F., Mowszowicz I., Chaussain J.L., Young J., Morel Y., Schaison G.
J. Clin. Endocrinol. Metab. 81:2994-2998(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ILE-781. - Ref.147"Molecular basis of androgen insensitivity."
Bruggenwirth H.T., Boehmer A.L.M., Verleun-Mooijman M.C.T., Hoogenboezem T., Kleijer W.J., Otten B.J., Trapman J., Brinkmann A.O.
J. Steroid Biochem. Mol. Biol. 58:569-575(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ASP-574. - Ref.148"Androgen receptor gene mutations are rarely associated with isolated penile hypospadias."
Sutherland R.W., Wiener J.S., Hicks J.P., Marcelli M., Gonzales E.T. Jr., Roth D.R., Lamb D.J.
J. Urol. 156:828-831(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS SER-549. - Ref.149"Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations."
Lobaccaro J.-M., Poujol N., Chiche L., Lumbroso S., Brown T.R., Sultan C.
Mol. Cell. Endocrinol. 116:137-147(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PRO-617. - Ref.150"Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor."
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-580, VARIANT PAIS TYR-583. - Ref.153"Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling."
Boehmer A.L.M., Brinkmann A.O., Niermeijer M.F., Bakker L., Halley D.J.J., Drop S.L.S.
Am. J. Hum. Genet. 60:1003-1006(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS HIS-856. - Ref.156"Molecular analysis of androgen resistance syndromes in Egyptian patients."
Essawi M., Gad Y.Z., el-Rouby O., Temtamy S.A., Sabour Y.A., el-Awady M.K.
Dis. Markers 13:99-105(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS MET-890. - Ref.157"Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene."
Sinnecker G.H., Hiort O., Nitsche E.M., Holterhus P.M., Kruse K.
Eur. J. Pediatr. 156:7-14(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS TRP-780. - Ref.158"Mutations of the androgen receptor gene in patients with complete androgen insensitivity."
Jakubiczka S., Nedel S., Werder E.A., Schleiermacher E., Theile U., Wolff G., Wieacker P.
Hum. Mutat. 9:57-61(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS VAL-750; CYS-775; ILE-781 AND SER-795. - Ref.161"DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome."
Komori S., Sakata K., Tanaka H., Shima H., Koyama K.
J. Obstet. Gynaecol. Res. 23:277-281(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ARG-196 AND CYS-856. - Ref.163"Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women."
Ko T.M., Yang Y.S., Wu M.Y., Kao C.H., Hsu P.M., Chuang S.M., Lee T.Y.
J. Reprod. Med. 42:424-428(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ASN-733 AND THR-766. - Ref.164"Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome."
Bevan C.L., Hughes I.A., Patterson M.N.
J. Steroid Biochem. Mol. Biol. 61:19-26(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ASP-751; PHE-763; THR-766; ASN-865 AND PHE-908. - Ref.165"Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome."
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLY-704, VARIANT AIS LEU-917. - Ref.166"Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity."
Komori S., Kasumi H., Sakata K., Tanaka H., Hamada K., Koyama K.
Arch. Gynecol. Obstet. 261:95-100(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-572; GLN-753 AND CYS-775. - Ref.167"Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism."
Cabral D.F., Maciel-Guerra A.T., Hackel C.
Braz. J. Med. Biol. Res. 31:775-778(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS HIS-616 AND GLN-753. - Ref.169"One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome."
Tanaka H., Komori S., Sakata K., Shima H., Koyama K.
Gynecol. Endocrinol. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS PRO-257 AND ALA-821. - Ref.170"Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome."
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS THR-766; TYR-785 AND THR-896, VARIANT PAIS GLY-841. - Ref.171"A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome."
Doerk T., Schnieders F., Jakubiczka S., Wieacker P., Schroeder-Kurth T., Schmidtke J.
Hum. Mutat. 11:337-339(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-696. - Ref.173"Single amino acid substitution in the hormone-binding domain of the androgen receptor in a family with complete androgen insensitivity syndrome (CAIS)."
Knoke I., Jakubiczka S., Rohrer T., Hanimann B., Werder E.A., Wieacker P.
Hum. Mutat. 12:220-220(1998)Cited for: VARIANT AIS LEU-893. - Ref.176"Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation."
Wang Q., Ghadessy F.J., Trounson A., de Kretser D., McLachlan R., Ng S.C., Yong E.L.
J. Clin. Endocrinol. Metab. 83:4303-4309(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS GLU-799. - Ref.177"Inherited and de novo androgen receptor gene mutations: investigation of single-case families."
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
J. Pediatr. 132:939-943(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS. - Ref.182"Analysis of exon 1 mutations in the androgen receptor gene."
Gottlieb B., Vasiliou D.M., Lumbroso R., Beitel L.K., Pinsky L., Trifiro M.A.
Hum. Mutat. 14:527-539(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ARG-392 AND ARG-445. - Ref.183"Androgen receptor gene mutations in 46,XY females with germ cell tumours."
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLN-608, VARIANT AIS LYS-682. - Ref.184"A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation."
Kanayama H., Naroda T., Inoue Y., Kurokawa Y., Kagawa S.
Int. J. Urol. 6:327-330(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS LEU-893. - Ref.185"Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively."
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS ALA-773, VARIANT AIS GLY-872. - Ref.189"An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity."
Peters I., Weidemann W., Romalo G., Knorr D., Schweikert H.-U., Spindler K.D.
Mol. Cell. Endocrinol. 148:47-53(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS LEU-893. - Ref.191"Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome."
Holterhus P.M., Wiebel J., Sinnecker G.H., Bruggenwirth H.T., Sippell W.G., Brinkmann A.O., Kruse K., Hiort O.
Pediatr. Res. 46:684-690(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS THR-597. - Ref.192"Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome."
Yaegashi N., Uehara S., Senoo M., Sato J., Fujiwara J., Funato T., Sasaki T., Yajima A.
Tohoku J. Exp. Med. 187:263-272(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS PHE-813 AND GLN-832. - Ref.195"Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome."
Ahmed S.F., Cheng A., Dovey L., Hawkins J.R., Martin H., Rowland J., Shimura N., Tait A.D., Hughes I.A.
J. Clin. Endocrinol. Metab. 85:658-665(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS AND PAIS. - Ref.196"Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome."
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS THR-683 AND GLU-712, VARIANTS AIS GLU-744; VAL-828; ARG-875 AND TYR-880. - Ref.198"Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis."
Sills E.S., Sholes T.E., Perloe M., Kaplan C.R., Davis J.G., Tucker M.J.
Int. J. Mol. Med. 9:45-48(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS TYR-706. - Ref.201"Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor."
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-577. - Ref.202"Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains."
Jaeaeskelaeinen J., Deeb A., Schwabe J.W., Mongan N.P., Martin H., Hughes I.A.
J. Mol. Endocrinol. 36:361-368(2006) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS AIS ASN-696; CYS-764; HIS-775; GLU-799; HIS-856 AND PHE-908.
Lubahn D.B., Brown T.R., Simental J.A., Higgs H.N., Migeon C.J., Wilson E.M., French F.S.
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Bohl C.E., Miller D.D., Chen J., Bell C.E., Dalton J.T.
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Sweet C.R., Behzadian M.A., McDonough P.G.
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Jakubiczka S., Werder E.A., Wieacker P.
Hum. Genet. 90:311-312(1992) [PubMed] [Europe PMC] [Abstract]
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
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Nakao R., Haji M., Yanase T., Ogo A., Takayanagi R., Katsube T., Fukumaki Y., Nawata H.
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Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
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Mol. Endocrinol. 6:1909-1920(1992) [PubMed] [Europe PMC] [Abstract]
Lumbroso S., Lobaccaro J.-M., Belon C., Martin D., Chaussain J.-L., Sultan C.
Fertil. Steril. 60:814-819(1993) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Lumbroso S., Ktari R., Dumas R., Sultan C.
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Adeyemo O., Kallio P.J., Palvimo J.J., Kontula K., Jaenne O.A.
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Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
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Lobaccaro J.-M., Lumbroso S., Berta P., Chaussain J.-L., Sultan C.
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Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Lumbroso S., Belon C., Chaussain J.L., Toublanc J.E., Leheup B., Sultan C.
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Beitel L.K., Prior L., Vasiliou D.M., Gottlieb B., Kaufman M., Lumbroso R., Alvarado C., McGillivray B., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 3:21-27(1994) [PubMed] [Europe PMC] [Abstract]
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
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Baldazzi L., Baroncini C., Pirazzoli P., Balsamo A., Capelli M., Marchetti G., Bernardi F., Cacciari E.
Hum. Mol. Genet. 3:1169-1170(1994) [PubMed] [Europe PMC] [Abstract]
Tsukada T., Inoue M., Tachibana S., Nakai Y., Takebe H.
J. Clin. Endocrinol. Metab. 79:1202-1207(1994) [PubMed] [Europe PMC] [Abstract]
Beitel L.K., Kazemi-Esfarjani P., Kaufman M., Lumbroso R., DiGeorge A.M., Killinger D.W., Trifiro M.A., Pinsky L.
J. Clin. Invest. 94:546-554(1994) [PubMed] [Europe PMC] [Abstract]
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
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Yong E.L., Ng S.C., Roy A.C., Yun G., Ratnam S.S.
Lancet 344:826-827(1994) [PubMed] [Europe PMC] [Abstract]
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
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Imai A., Ohno T., Iida K., Ohsuye K., Okano Y., Tamaya T.
Ann. Clin. Biochem. 32:482-486(1995) [PubMed] [Europe PMC] [Abstract]
Davies H.R., Hughes I.A., Patterson M.N.
Clin. Endocrinol. (Oxf.) 43:69-77(1995) [PubMed] [Europe PMC] [Abstract]
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]
Shkolny D.L., Brown T.R., Punnett H.H., Kaufman M., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 4:515-521(1995) [PubMed] [Europe PMC] [Abstract]
Belsham D.D., Pereira F., Greenberg C.R., Liao S., Wrogemann K.
Hum. Mutat. 5:28-33(1995) [PubMed] [Europe PMC] [Abstract]
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
Am. J. Med. Genet. 63:218-222(1996) [PubMed] [Europe PMC] [Abstract]
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]
Malmgren H., Gustavsson J., Tuvemo T., Dahl N.
Clin. Genet. 50:202-205(1996) [PubMed] [Europe PMC] [Abstract]
Lumbroso S., Lobaccaro J.-M., Georget V., Leger J., Poujol N., Terouanne B., Evain-Brion D., Czernichow P., Sultan C.
J. Clin. Endocrinol. Metab. 81:1984-1988(1996) [PubMed] [Europe PMC] [Abstract]
Rodien P., Mebarki F., Mowszowicz I., Chaussain J.L., Young J., Morel Y., Schaison G.
J. Clin. Endocrinol. Metab. 81:2994-2998(1996) [PubMed] [Europe PMC] [Abstract]
Bruggenwirth H.T., Boehmer A.L.M., Verleun-Mooijman M.C.T., Hoogenboezem T., Kleijer W.J., Otten B.J., Trapman J., Brinkmann A.O.
J. Steroid Biochem. Mol. Biol. 58:569-575(1996) [PubMed] [Europe PMC] [Abstract]
Sutherland R.W., Wiener J.S., Hicks J.P., Marcelli M., Gonzales E.T. Jr., Roth D.R., Lamb D.J.
J. Urol. 156:828-831(1996) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Poujol N., Chiche L., Lumbroso S., Brown T.R., Sultan C.
Mol. Cell. Endocrinol. 116:137-147(1996) [PubMed] [Europe PMC] [Abstract]
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]
Boehmer A.L.M., Brinkmann A.O., Niermeijer M.F., Bakker L., Halley D.J.J., Drop S.L.S.
Am. J. Hum. Genet. 60:1003-1006(1997) [PubMed] [Europe PMC] [Abstract]
Essawi M., Gad Y.Z., el-Rouby O., Temtamy S.A., Sabour Y.A., el-Awady M.K.
Dis. Markers 13:99-105(1997) [PubMed] [Europe PMC] [Abstract]
Sinnecker G.H., Hiort O., Nitsche E.M., Holterhus P.M., Kruse K.
Eur. J. Pediatr. 156:7-14(1997) [PubMed] [Europe PMC] [Abstract]
Jakubiczka S., Nedel S., Werder E.A., Schleiermacher E., Theile U., Wolff G., Wieacker P.
Hum. Mutat. 9:57-61(1997) [PubMed] [Europe PMC] [Abstract]
Komori S., Sakata K., Tanaka H., Shima H., Koyama K.
J. Obstet. Gynaecol. Res. 23:277-281(1997) [PubMed] [Europe PMC] [Abstract]
Ko T.M., Yang Y.S., Wu M.Y., Kao C.H., Hsu P.M., Chuang S.M., Lee T.Y.
J. Reprod. Med. 42:424-428(1997) [PubMed] [Europe PMC] [Abstract]
Bevan C.L., Hughes I.A., Patterson M.N.
J. Steroid Biochem. Mol. Biol. 61:19-26(1997) [PubMed] [Europe PMC] [Abstract]
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]
Komori S., Kasumi H., Sakata K., Tanaka H., Hamada K., Koyama K.
Arch. Gynecol. Obstet. 261:95-100(1998) [PubMed] [Europe PMC] [Abstract]
Cabral D.F., Maciel-Guerra A.T., Hackel C.
Braz. J. Med. Biol. Res. 31:775-778(1998) [PubMed] [Europe PMC] [Abstract]
Tanaka H., Komori S., Sakata K., Shima H., Koyama K.
Gynecol. Endocrinol. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]
Doerk T., Schnieders F., Jakubiczka S., Wieacker P., Schroeder-Kurth T., Schmidtke J.
Hum. Mutat. 11:337-339(1998) [PubMed] [Europe PMC] [Abstract]
Knoke I., Jakubiczka S., Rohrer T., Hanimann B., Werder E.A., Wieacker P.
Hum. Mutat. 12:220-220(1998)
Wang Q., Ghadessy F.J., Trounson A., de Kretser D., McLachlan R., Ng S.C., Yong E.L.
J. Clin. Endocrinol. Metab. 83:4303-4309(1998) [PubMed] [Europe PMC] [Abstract]
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
J. Pediatr. 132:939-943(1998) [PubMed] [Europe PMC] [Abstract]
Gottlieb B., Vasiliou D.M., Lumbroso R., Beitel L.K., Pinsky L., Trifiro M.A.
Hum. Mutat. 14:527-539(1999) [PubMed] [Europe PMC] [Abstract]
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]
Kanayama H., Naroda T., Inoue Y., Kurokawa Y., Kagawa S.
Int. J. Urol. 6:327-330(1999) [PubMed] [Europe PMC] [Abstract]
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]
Peters I., Weidemann W., Romalo G., Knorr D., Schweikert H.-U., Spindler K.D.
Mol. Cell. Endocrinol. 148:47-53(1999) [PubMed] [Europe PMC] [Abstract]
Holterhus P.M., Wiebel J., Sinnecker G.H., Bruggenwirth H.T., Sippell W.G., Brinkmann A.O., Kruse K., Hiort O.
Pediatr. Res. 46:684-690(1999) [PubMed] [Europe PMC] [Abstract]
Yaegashi N., Uehara S., Senoo M., Sato J., Fujiwara J., Funato T., Sasaki T., Yajima A.
Tohoku J. Exp. Med. 187:263-272(1999) [PubMed] [Europe PMC] [Abstract]
Ahmed S.F., Cheng A., Dovey L., Hawkins J.R., Martin H., Rowland J., Shimura N., Tait A.D., Hughes I.A.
J. Clin. Endocrinol. Metab. 85:658-665(2000) [PubMed] [Europe PMC] [Abstract]
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]
Sills E.S., Sholes T.E., Perloe M., Kaplan C.R., Davis J.G., Tucker M.J.
Int. J. Mol. Med. 9:45-48(2002) [PubMed] [Europe PMC] [Abstract]
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]
Jaeaeskelaeinen J., Deeb A., Schwabe J.W., Mongan N.P., Martin H., Hughes I.A.
J. Mol. Endocrinol. 36:361-368(2006) [PubMed] [Europe PMC] [Abstract]
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004679 | 2 | E → K in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009224 | 196 | Q → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009225 | 257 | L → P in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009226 | 392 | P → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009227 | 392 | P → S in AIS. Corresponds to variant dbSNP:rs201934623Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009228 | 445 | Q → R in AIS; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009719 | 492 | G → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009721 | 548 | L → F in PAIS. Corresponds to variant dbSNP:rs139524801Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009722 | 549 | P → S in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009723 | 560 | C → Y in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009726 | 569 | G → W in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009727 | 572 | Y → C in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009728 | 574 | A → D in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009731 | 577 | C → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009732 | 577 | C → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009733 | 580 | C → F in AIS; reduced transcription and DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009734 | 580 | C → Y in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009736 | 582 | V → F in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009737 | 583 | F → S in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009738 | 583 | F → Y in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009739 | 583 | Missing in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009740 | 586 | R → K in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009743 | 597 | A → T in AIS; abolishes dimerization. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009744 | 598 | S → G in PAIS; associated with P-618 in a PAIS patient; normal androgen binding; does not activate transcription; impairs DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009746 | 602 | C → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009747 | 605 | D → Y in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004684 | 608 | R → Q in PAIS and breast cancer. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004685 | 609 | R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009748 | 611 | N → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009749 | 612 | C → Y in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009751 | 616 | R → H in AIS and PAIS. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009752 | 616 | R → P in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009750 | 616 | Missing in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009753 | 617 | L → P in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009754 | 617 | L → R in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009755 | 618 | R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004687 | 665 | I → N in AIS and PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009762 | 672 | P → H in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004688 | 678 | L → P in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009764 | 682 | E → K in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013474 | 683 | P → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009766 | 685 | V → I in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009767 | 687 | C → R in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009768 | 688 | A → V in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009769 | 689 | G → E in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009770 | 691 | Missing in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004689 | 693 | Missing in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004690 | 696 | D → H in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004691 | 696 | D → N in AIS; almost complete loss of androgen binding and transcription activation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004692 | 696 | D → V in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009771 | 701 | L → M in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009772 | 702 | L → F in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009773 | 702 | L → H in AIS and prostate cancer. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009774 | 703 | S → A in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009775 | 704 | S → C in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004693 | 704 | S → G in PAIS and AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009776 | 706 | N → S in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013475 | 706 | N → Y in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004694 | 708 | L → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009777 | 709 | G → A in PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009778 | 709 | G → V in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009779 | 711 | R → T in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013476 | 712 | Q → E in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009780 | 713 | L → F in PAIS. Corresponds to variant dbSNP:rs137852595Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009785 | 723 | L → F in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009786 | 724 | P → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009787 | 725 | G → D in AIS and prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009790 | 728 | N → K in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009791 | 729 | L → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004696 | 733 | D → N in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004697 | 733 | D → Y in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009792 | 734 | Q → H in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009793 | 738 | I → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009794 | 742 | W → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004698 | 743 | M → I in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009795 | 743 | M → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013477 | 744 | G → E in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004699 | 744 | G → V in PAIS and AIS. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009796 | 745 | L → F in AIS and prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009797 | 746 | M → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009798 | 747 | V → M in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009799 | 749 | A → D in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004700 | 750 | M → V in PAIS and AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004701 | 751 | G → D in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009804 | 752 | W → R in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004702 | 753 | R → Q in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009805 | 755 | F → L in PAIS and prostate cancer. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004703 | 755 | F → V in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009807 | 757 | N → S in PAIS. Corresponds to variant dbSNP:rs141425171Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009809 | 759 | N → T in PAIS; 50% reduction in transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009810 | 760 | S → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004704 | 763 | L → F in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004705 | 764 | Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009812 | 764 | Y → H in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009813 | 765 | F → L in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004707 | 766 | A → T in AIS; loss of androgen binding. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009814 | 766 | A → V in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009815 | 767 | P → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009816 | 768 | D → E in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009817 | 769 | L → P in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009818 | 772 | N → H in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009819 | 773 | E → A in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009820 | 773 | E → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004709 | 775 | R → C in AIS; frequent mutation; loss of androgen binding. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004708 | 775 | R → H in AIS and PAIS; almost complete loss of androgen binding. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004710 | 780 | R → W in AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004711 | 781 | M → I in PAIS and AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004712 | 785 | C → Y in AIS; loss of androgen binding and of transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004713 | 788 | M → V in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009822 | 789 | R → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009823 | 791 | L → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004714 | 795 | F → S in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004715 | 799 | Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009826 | 807 | C → Y in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004716 | 808 | M → R in AIS; loss of transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009827 | 808 | M → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004717 | 808 | M → V in AIS; 25% androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009828 | 813 | L → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004718 | 815 | S → N in AIS and PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009829 | 821 | G → A in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009830 | 822 | L → V in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013478 | 828 | F → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004719 | 832 | R → L in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004720 | 832 | R → Q in AIS; loss of androgen binding. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009832 | 835 | Y → C in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004721 | 841 | R → C in AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004722 | 841 | R → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004723 | 841 | R → H in AIS. 7 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009229 | 841 | R → S in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009833 | 842 | I → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004724 | 843 | I → T in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009835 | 855 | R → K in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004725 | 856 | R → C in AIS. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004726 | 856 | R → H in AIS; strongly reduced transcription activation. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009836 | 857 | F → L in AIS. Corresponds to variant dbSNP:rs137852598Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009837 | 864 | L → R in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009838 | 865 | D → G in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004727 | 865 | D → N in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009839 | 866 | S → P in AIS. Corresponds to variant dbSNP:rs137852597Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004728 | 867 | V → E in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004729 | 867 | V → L in PAIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004730 | 867 | V → M in AIS and prostate cancer. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004731 | 870 | I → M in PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009840 | 871 | A → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009841 | 871 | A → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009842 | 872 | R → G in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013479 | 875 | H → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013480 | 880 | D → Y in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009846 | 882 | L → V in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009847 | 887 | M → V in AIS. Corresponds to variant dbSNP:rs755226547Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009848 | 890 | V → M in AIS and PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004733 | 893 | P → L in AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004734 | 896 | M → T in AIS; low androgen binding and transactivation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009852 | 899 | I → T in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009854 | 904 | V → M in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009855 | 905 | P → H in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009856 | 905 | P → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004735 | 908 | L → F in AIS; almost complete loss of transcription activation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009858 | 910 | G → R in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009860 | 912 | V → L in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004736 | 914 | P → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009861 | 917 | F → L in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009862 | 918 | H → R in AIS. | 1 |
Spinal and bulbar muscular atrophy X-linked 1 (SMAX1)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.200"A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy."
Echaniz-Laguna A., Rousso E., Anheim M., Cossee M., Tranchant C.
Neurology 64:1458-1460(2005) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN SMAX1.
Echaniz-Laguna A., Rousso E., Anheim M., Cossee M., Tranchant C.
Neurology 64:1458-1460(2005) [PubMed] [Europe PMC] [Abstract]
Androgen insensitivity, partial (PAIS)42 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.81"Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy."
McPhaul M.J., Marcelli M., Tilley W.D., Griffin J.E., Isidro-Gutierrez R.F., Wilson J.D.
J. Clin. Invest. 87:1413-1421(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS CYS-764. - Ref.84"Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome."
Saunders P.T., Padayachi T., Tincello D.G., Shalet S.M., Wu F.C.
Clin. Endocrinol. (Oxf.) 37:214-220(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS LYS-609 AND LEU-867. - Ref.87"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome."
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.90"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene."
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.92"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance."
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS TYR-560 AND ARG-577, VARIANTS PAIS GLY-598 AND PRO-618. - Ref.94"A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome."
Wooster R., Mangion J., Eeles R., Smith S., Dowsett M., Averill D., Barrett-Lee P., Easton D.F., Ponder B.A., Stratton M.R.
Nat. Genet. 2:132-134(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS/BREAST CANCER GLN-608. - Ref.99"Androgen receptor gene mutation in male breast cancer."
Lobaccaro J.-M., Lumbroso S., Belon C., Galtier-Dereure F., Bringer J., Lesimple T., Namer M., Cutuli B.F., Pujol H., Sultan C.
Hum. Mol. Genet. 2:1799-1802(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS/BREAST CANCER LYS-609. - Ref.101"A single amino acid substitution (Gly743 --> Val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome."
Nakao R., Yanase T., Sakai Y., Haji M., Nawata H.
J. Clin. Endocrinol. Metab. 77:103-107(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS VAL-744. - Ref.102"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy."
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS LYS-682 AND THR-843, VARIANTS PAIS HIS-841 AND LEU-867. - Ref.103"Mutations of the androgen receptor gene identified in perineal hypospadias."
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS HIS-856 AND MET-870. - Ref.106"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes."
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS MET-867, VARIANT PAIS LEU-867. - Ref.112"Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene."
Lobaccaro J.-M., Belon C., Lumbroso S., Olewniczack G., Carre-Pigeon F., Job J.C., Chaussain J.L., Toublanc J.E., Sultan C.
Clin. Endocrinol. (Oxf.) 40:297-302(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS TRP-569. - Ref.113"Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)."
Lumbroso S., Lobaccaro J.-M., Belon C., Amram S., Bachelard B., Garandeau P., Sultan C.
Eur. J. Endocrinol. 130:327-332(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS HIS-841. - Ref.114"Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor."
Imasaki K., Hasegawa T., Okabe T., Sakai Y., Haji M., Takayanagi R., Nawata H.
Eur. J. Endocrinol. 130:569-574(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS HIS-841. - Ref.115"Molecular characterization of the androgen receptor gene in boys with hypospadias."
Hiort O., Klauber G., Cendron M., Sinnecker G.H., Keim L., Schwinger E., Wolfe H.J., Yandell D.W.
Eur. J. Pediatr. 153:317-321(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS VAL-871. - Ref.116"Partial androgen insensitivity (PAIS) in a large eskimo kindred caused by a delD690 mutation in the androgen receptor (AR) gene (Abstract #244)."
Schwartz M., Skovby F., Mueller J., Nielsen O., Skakkebaek N.E.
Horm. Res. 41:117-117(1994)Cited for: VARIANT PAIS ASP-691 DEL. - Ref.118"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis."
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772, VARIANT AIS TRP-780. - Ref.120"Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome."
De Bellis A., Quigley C.A., Marschke K.B., el-Awady M.K., Lane M.V., Smith E.P., Sar M., Wilson E.M., French F.S.
J. Clin. Endocrinol. Metab. 78:513-522(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS ARG-617; HIS-841 AND MET-890. - Ref.123"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex."
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.125"A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity."
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS HIS-616 AND LEU-765, VARIANTS PAIS VAL-743 AND THR-746. - Ref.129"Androgen receptor defects: historical, clinical, and molecular perspectives."
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS SER-706 AND HIS-764, VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799. - Ref.132"Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain."
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS CYS-764, VARIANTS AIS TRP-780; VAL-808 AND CYS-856. - Ref.136"A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome."
Gast A., Neuschmid-Kaspar F., Klocker H., Cato A.C.B.
Mol. Cell. Endocrinol. 111:93-98(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS THR-597. - Ref.140"Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene."
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856, VARIANT AIS MET-867. - Ref.142"Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome."
Bevan C.L., Brown B.B., Davies H.R., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 5:265-273(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS ILE-743; ILE-781; GLU-799; CYS-841; HIS-856 AND MET-870. - Ref.143"Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels."
Choong C.S., Sturm M.J., Strophair J.A., McCulloch R.K., Tilley W.D., Leedman P.J., Hurley D.M.
J. Clin. Endocrinol. Metab. 81:236-243(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS ARG-910. - Ref.146"A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation."
Choong C.S., Quigley C.A., French F.S., Wilson E.M.
J. Clin. Invest. 98:1423-1431(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS LYS-2. - Ref.150"Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor."
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-580, VARIANT PAIS TYR-583. - Ref.155"Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome."
Tincello D.G., Saunders P.T., Hodgins M.B., Simpson N.B., Edwards C.R., Hargreaves T.B., Wu F.C.
Clin. Endocrinol. (Oxf.) 46:497-506(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS LYS-609 AND GLY-773. - Ref.162"Etiologic classification of severe hypospadias: implications for prognosis and management."
Albers N., Ulrichs C., Gluer S., Hiort O., Sinnecker G.H., Mildenberger H., Brodehl J.
J. Pediatr. 131:386-392(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS ALA-709 AND GLY-871. - Ref.165"Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome."
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLY-704, VARIANT AIS LEU-917. - Ref.170"Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome."
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS THR-766; TYR-785 AND THR-896, VARIANT PAIS GLY-841. - Ref.174"Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor."
Weidemann W., Peters B., Romalo G., Spindler K.D., Schweikert H.-U.
J. Clin. Endocrinol. Metab. 83:1173-1176(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLN-608. - Ref.175"Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome."
Georget V., Terouanne B., Lumbroso S., Nicolas J.C., Sultan C.
J. Clin. Endocrinol. Metab. 83:3597-3603(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS VAL-744 AND CYS-841. - Ref.178"Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain."
Yong E.L., Tut T.G., Ghadessy F.J., Prins G., Ratnam S.S.
Mol. Cell. Endocrinol. 137:41-50(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS THR-759. - Ref.179"A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia."
Knoke I., Jakubiczka S., Lehnert H., Wieacker P.
Andrologia 31:199-201(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS LEU-912. - Ref.181"A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome."
Melo K.F.S., Latronico A.C., Costa E.M.F., Billerbeck A.E.C., Mendonca B.B., Arnhold I.J.P.
Hum. Mutat. 14:353-353(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS SER-841. - Ref.183"Androgen receptor gene mutations in 46,XY females with germ cell tumours."
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLN-608, VARIANT AIS LYS-682. - Ref.185"Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively."
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS ALA-773, VARIANT AIS GLY-872. - Ref.188"Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation."
Ong Y.C., Wong H.B., Adaikan G., Yong E.L.
Lancet 354:1444-1445(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS THR-808. - Ref.196"Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome."
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS THR-683 AND GLU-712, VARIANTS AIS GLU-744; VAL-828; ARG-875 AND TYR-880. - Ref.201"Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor."
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-577.
McPhaul M.J., Marcelli M., Tilley W.D., Griffin J.E., Isidro-Gutierrez R.F., Wilson J.D.
J. Clin. Invest. 87:1413-1421(1991) [PubMed] [Europe PMC] [Abstract]
Saunders P.T., Padayachi T., Tincello D.G., Shalet S.M., Wu F.C.
Clin. Endocrinol. (Oxf.) 37:214-220(1992) [PubMed] [Europe PMC] [Abstract]
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]
Wooster R., Mangion J., Eeles R., Smith S., Dowsett M., Averill D., Barrett-Lee P., Easton D.F., Ponder B.A., Stratton M.R.
Nat. Genet. 2:132-134(1992) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Lumbroso S., Belon C., Galtier-Dereure F., Bringer J., Lesimple T., Namer M., Cutuli B.F., Pujol H., Sultan C.
Hum. Mol. Genet. 2:1799-1802(1993) [PubMed] [Europe PMC] [Abstract]
Nakao R., Yanase T., Sakai Y., Haji M., Nawata H.
J. Clin. Endocrinol. Metab. 77:103-107(1993) [PubMed] [Europe PMC] [Abstract]
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Belon C., Lumbroso S., Olewniczack G., Carre-Pigeon F., Job J.C., Chaussain J.L., Toublanc J.E., Sultan C.
Clin. Endocrinol. (Oxf.) 40:297-302(1994) [PubMed] [Europe PMC] [Abstract]
Lumbroso S., Lobaccaro J.-M., Belon C., Amram S., Bachelard B., Garandeau P., Sultan C.
Eur. J. Endocrinol. 130:327-332(1994) [PubMed] [Europe PMC] [Abstract]
Imasaki K., Hasegawa T., Okabe T., Sakai Y., Haji M., Takayanagi R., Nawata H.
Eur. J. Endocrinol. 130:569-574(1994) [PubMed] [Europe PMC] [Abstract]
Hiort O., Klauber G., Cendron M., Sinnecker G.H., Keim L., Schwinger E., Wolfe H.J., Yandell D.W.
Eur. J. Pediatr. 153:317-321(1994) [PubMed] [Europe PMC] [Abstract]
Schwartz M., Skovby F., Mueller J., Nielsen O., Skakkebaek N.E.
Horm. Res. 41:117-117(1994)
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]
De Bellis A., Quigley C.A., Marschke K.B., el-Awady M.K., Lane M.V., Smith E.P., Sar M., Wilson E.M., French F.S.
J. Clin. Endocrinol. Metab. 78:513-522(1994) [PubMed] [Europe PMC] [Abstract]
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]
Gast A., Neuschmid-Kaspar F., Klocker H., Cato A.C.B.
Mol. Cell. Endocrinol. 111:93-98(1995) [PubMed] [Europe PMC] [Abstract]
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]
Bevan C.L., Brown B.B., Davies H.R., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 5:265-273(1996) [PubMed] [Europe PMC] [Abstract]
Choong C.S., Sturm M.J., Strophair J.A., McCulloch R.K., Tilley W.D., Leedman P.J., Hurley D.M.
J. Clin. Endocrinol. Metab. 81:236-243(1996) [PubMed] [Europe PMC] [Abstract]
Choong C.S., Quigley C.A., French F.S., Wilson E.M.
J. Clin. Invest. 98:1423-1431(1996) [PubMed] [Europe PMC] [Abstract]
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]
Tincello D.G., Saunders P.T., Hodgins M.B., Simpson N.B., Edwards C.R., Hargreaves T.B., Wu F.C.
Clin. Endocrinol. (Oxf.) 46:497-506(1997) [PubMed] [Europe PMC] [Abstract]
Albers N., Ulrichs C., Gluer S., Hiort O., Sinnecker G.H., Mildenberger H., Brodehl J.
J. Pediatr. 131:386-392(1997) [PubMed] [Europe PMC] [Abstract]
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]
Weidemann W., Peters B., Romalo G., Spindler K.D., Schweikert H.-U.
J. Clin. Endocrinol. Metab. 83:1173-1176(1998) [PubMed] [Europe PMC] [Abstract]
Georget V., Terouanne B., Lumbroso S., Nicolas J.C., Sultan C.
J. Clin. Endocrinol. Metab. 83:3597-3603(1998) [PubMed] [Europe PMC] [Abstract]
Yong E.L., Tut T.G., Ghadessy F.J., Prins G., Ratnam S.S.
Mol. Cell. Endocrinol. 137:41-50(1998) [PubMed] [Europe PMC] [Abstract]
Knoke I., Jakubiczka S., Lehnert H., Wieacker P.
Andrologia 31:199-201(1999) [PubMed] [Europe PMC] [Abstract]
Melo K.F.S., Latronico A.C., Costa E.M.F., Billerbeck A.E.C., Mendonca B.B., Arnhold I.J.P.
Hum. Mutat. 14:353-353(1999) [PubMed] [Europe PMC] [Abstract]
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]
Ong Y.C., Wong H.B., Adaikan G., Yong E.L.
Lancet 354:1444-1445(1999) [PubMed] [Europe PMC] [Abstract]
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004679 | 2 | E → K in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009721 | 548 | L → F in PAIS. Corresponds to variant dbSNP:rs139524801Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009726 | 569 | G → W in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009737 | 583 | F → S in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009738 | 583 | F → Y in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009744 | 598 | S → G in PAIS; associated with P-618 in a PAIS patient; normal androgen binding; does not activate transcription; impairs DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009747 | 605 | D → Y in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004684 | 608 | R → Q in PAIS and breast cancer. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004685 | 609 | R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009748 | 611 | N → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009751 | 616 | R → H in AIS and PAIS. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009754 | 617 | L → R in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009755 | 618 | R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004687 | 665 | I → N in AIS and PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009762 | 672 | P → H in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013474 | 683 | P → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009767 | 687 | C → R in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009768 | 688 | A → V in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009770 | 691 | Missing in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004693 | 704 | S → G in PAIS and AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009777 | 709 | G → A in PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013476 | 712 | Q → E in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009780 | 713 | L → F in PAIS. Corresponds to variant dbSNP:rs137852595Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009791 | 729 | L → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009792 | 734 | Q → H in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009793 | 738 | I → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004698 | 743 | M → I in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009795 | 743 | M → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004699 | 744 | G → V in PAIS and AIS. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009797 | 746 | M → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009798 | 747 | V → M in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009799 | 749 | A → D in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004700 | 750 | M → V in PAIS and AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009805 | 755 | F → L in PAIS and prostate cancer. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009807 | 757 | N → S in PAIS. Corresponds to variant dbSNP:rs141425171Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009809 | 759 | N → T in PAIS; 50% reduction in transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004705 | 764 | Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009818 | 772 | N → H in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009819 | 773 | E → A in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009820 | 773 | E → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004708 | 775 | R → H in AIS and PAIS; almost complete loss of androgen binding. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004711 | 781 | M → I in PAIS and AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004715 | 799 | Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009826 | 807 | C → Y in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009827 | 808 | M → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004718 | 815 | S → N in AIS and PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009830 | 822 | L → V in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013478 | 828 | F → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004722 | 841 | R → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009229 | 841 | R → S in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009833 | 842 | I → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009835 | 855 | R → K in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004729 | 867 | V → L in PAIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004731 | 870 | I → M in PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009840 | 871 | A → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009841 | 871 | A → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009848 | 890 | V → M in AIS and PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009854 | 904 | V → M in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009858 | 910 | G → R in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009860 | 912 | V → L in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004736 | 914 | P → S in PAIS. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 83 | S → A: Reduced cell growth. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 225 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 269 | Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 309 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 348 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 359 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 364 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 365 | Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-269. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 395 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 535 | Y → F: Greatest decrease of CSK-induced phosphorylation and inhibition of transcriptional activity induced by EGF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 552 | Y → F: Decrease in CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 702 | L → A: Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 721 | K → A: Loss of transcription activation in the presence of androgen and of interaction with NCOA2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 742 | W → L: Strongly decreased transcription activation in the presence of androgen. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 846 | K → R: Prevents ubiquitination by RNF6. Prevents AR transcriptional activation by RNF14 in absence of hormone. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 848 | K → R: Partially prevents ubiquitination by RNF6. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 898 | E → A or Q: Reduced transcription activation in the presence of androgen. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 898 | E → K or R: Loss of transcription activation in the presence of androgen. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">‘Pathology and Biotech’</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 916 | Y → F: Decrease in CSK-induced phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutation, Neurodegeneration, PseudohermaphroditismOrganism-specific databases
DisGeNET More...DisGeNETi | 367. |
MalaCards human disease database More...MalaCardsi | AR. |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 300068. phenotype. 312300. phenotype. 313200. phenotype. |
Open Targets More...OpenTargetsi | ENSG00000169083. |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 99429. Complete androgen insensitivity syndrome. 440. Familial hypospadias. 481. Kennedy disease. 90797. Partial androgen insensitivity syndrome. |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA57. |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1871. |
Drug and drug target database More...DrugBanki | DB02932. (2r)-N-[4-Cyano-3-(Trifluoromethyl)Phenyl]-3-[(4-Fluorophenyl)Sulfonyl]-2-Hydroxy-2-Methylpropanamide. DB07422. (2S)-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]-3-(pentafluorophenoxy)propanamide. DB07419. (2S)-3-(4-chloro-3-fluorophenoxy)-N-[4-cyano-3-(trifluoromethyl)phenyl]-2-hydroxy-2-methylpropanamide. DB07423. (2S)-3-[4-(acetylamino)phenoxy]-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propanamide. DB07039. (2S)-N-(4-cyano-3-iodophenyl)-3-(4-cyanophenoxy)-2-hydroxy-2-methylpropanamide. DB07454. (R)-3-BROMO-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE. DB01128. Bicalutamide. DB01541. Boldenone. DB01564. Calusterone. DB04839. Cyproterone acetate. DB01406. Danazol. DB01481. Delta1-dihydrotestosterone. DB02901. Dihydrotestosterone. DB01395. Drospirenone. DB00858. Drostanolone. DB08899. Enzalutamide. DB13155. Esculin. DB00687. Fludrocortisone. DB02266. Flufenamic Acid. DB01185. Fluoxymesterone. DB00499. Flutamide. DB01026. Ketoconazole. DB00367. Levonorgestrel. DB05234. LGD2941. DB05094. MDV3100. DB06710. Methyltestosterone. DB02998. Methyltrienolone. DB08804. Nandrolone decanoate. DB00984. Nandrolone phenpropionate. DB00665. Nilutamide. DB09389. Norgestrel. DB00621. Oxandrolone. DB06412. Oxymetholone. DB01708. Prasterone. DB07769. S-3-(4-FLUOROPHENOXY)-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE. DB00421. Spironolactone. DB00624. Testosterone. DB01420. Testosterone Propionate. DB08867. Ulipristal. |
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 628. |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | AR. |
Domain mapping of disease mutations (DMDM) More...DMDMi | 113830. |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000053704 | 1 – 920 | Androgen receptorAdd BLAST | 920 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 83 | Phosphoserine; by CDK91 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 96 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 225 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 258 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 269 | Phosphotyrosine; by CSK and TNK23 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 309 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 348 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 359 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 364 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 365 | Phosphotyrosine; by CSK and TNK22 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section"><span class="caps">PTM</span> / Processing</a> section describes covalent linkages of various types formed between two proteins (interchain cross-links) or between two parts of the same protein (intrachain cross-links), except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">‘Disulfide bond’</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki | 388 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| ||
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 395 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section"><span class="caps">PTM</span> / Processing</a> section describes covalent linkages of various types formed between two proteins (interchain cross-links) or between two parts of the same protein (intrachain cross-links), except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">‘Disulfide bond’</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki | 521 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
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<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 535 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 552 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 651 | Phosphoserine; by STK4/MST11 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section"><span class="caps">PTM</span> / Processing</a> section describes covalent linkages of various types formed between two proteins (interchain cross-links) or between two parts of the same protein (intrachain cross-links), except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">‘Disulfide bond’</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki | 846 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
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<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section"><span class="caps">PTM</span> / Processing</a> section describes covalent linkages of various types formed between two proteins (interchain cross-links) or between two parts of the same protein (intrachain cross-links), except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">‘Disulfide bond’</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki | 848 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
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<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 916 | Phosphotyrosine; by CSK1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section"><span class="caps">PTM</span>/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.28"Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1)."
Poukka H., Karvonen U., Jaenne O.A., Palvimo J.J.
Proc. Natl. Acad. Sci. U.S.A. 97:14145-14150(2000) [PubMed] [Europe PMC] [Abstract]Cited for: SUMOYLATION AT LYS-388 AND LYS-521. - Ref.49"Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination."
Xu K., Shimelis H., Linn D.E., Jiang R., Yang X., Sun F., Guo Z., Chen H., Li W., Chen H., Kong X., Melamed J., Fang S., Xiao Z., Veenstra T.D., Qiu Y.
Cancer Cell 15:270-282(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, POLYUBIQUITINATION AT LYS-846 AND LYS-848 BY RNF6, MUTAGENESIS OF LYS-846 AND LYS-848, INTERACTION WITH RNF14 AND RNF6, SUBCELLULAR LOCATION. - Ref.51"The deubiquitinating enzyme USP26 is a regulator of androgen receptor signaling."
Dirac A.M., Bernards R.
Mol. Cancer Res. 8:844-854(2010) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION, DEUBIQUITINATION, INTERACTION WITH USP26.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.36"Mechanism of p21-activated kinase 6-mediated inhibition of androgen receptor signaling."
Schrantz N., da Silva Correia J., Fowler B., Ge Q., Sun Z., Bokoch G.M.
J. Biol. Chem. 279:1922-1931(2004) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION BY PAK6. - Ref.39"Regulation of androgen receptor activity by tyrosine phosphorylation."
Guo Z., Dai B., Jiang T., Xu K., Xie Y., Kim O., Nesheiwat I., Kong X., Melamed J., Handratta V.D., Njar V.C., Brodie A.M., Yu L.-R., Veenstra T.D., Chen H., Qiu Y.
Cancer Cell 10:309-319(2006) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT TYR-225; TYR-269; TYR-309; TYR-348; TYR-359; TYR-364; TYR-365; TYR-395; TYR-535; TYR-552 AND TYR-916, MUTAGENESIS OF TYR-225; TYR-269; TYR-309; TYR-348; TYR-359; TYR-364; TYR-365; TYR-395; TYR-535; TYR-552 AND TYR-916, IDENTIFICATION BY MASS SPECTROMETRY. - Ref.44"Activated Cdc42-associated kinase Ack1 promotes prostate cancer progression via androgen receptor tyrosine phosphorylation."
Mahajan N.P., Liu Y., Majumder S., Warren M.R., Parker C.E., Mohler J.L., Earp H.S., Whang Y.E.
Proc. Natl. Acad. Sci. U.S.A. 104:8438-8443(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TNK2, PHOSPHORYLATION AT TYR-269 AND TYR-365 BY TNK2, MUTAGENESIS OF TYR-269 AND TYR-365. - Ref.50"CDK9 regulates AR promoter selectivity and cell growth through serine 81 phosphorylation."
Gordon V., Bhadel S., Wunderlich W., Zhang J., Ficarro S.B., Mollah S.A., Shabanowitz J., Hunt D.F., Xenarios I., Hahn W.C., Conaway M., Carey M.F., Gioeli D.
Mol. Endocrinol. 24:2267-2280(2010) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN AR KINASE, PHOSPHORYLATION AT SER-83 BY CDK9, MUTAGENESIS OF SER-83, INTERACTION WITH CDK9. - Ref.52"Effect of Ack1 tyrosine kinase inhibitor on ligand-independent androgen receptor activity."
Mahajan K., Challa S., Coppola D., Lawrence H., Luo Y., Gevariya H., Zhu W., Chen Y.A., Lawrence N.J., Mahajan N.P.
Prostate 70:1274-1285(2010) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT TYR-269, ENZYME REGULATION. - Ref.53"MST1 is a multifunctional caspase-independent inhibitor of androgenic signaling."
Cinar B., Collak F.K., Lopez D., Akgul S., Mukhopadhyay N.K., Kilicarslan M., Gioeli D.G., Freeman M.R.
Cancer Res. 71:4303-4313(2011) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-651, INTERACTION WITH STK4/MST1.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.56"DHHC-7 and -21 are palmitoylacyltransferases for sex steroid receptors."
Pedram A., Razandi M., Deschenes R.J., Levin E.R.
Mol. Biol. Cell 23:188-199(2012) [PubMed] [Europe PMC] [Abstract]Cited for: PALMITOYLATION.
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugationProteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | P10275. |
MaxQB - The MaxQuant DataBase More...MaxQBi | P10275. |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P10275. |
PeptideAtlas More...PeptideAtlasi | P10275. |
PRoteomics IDEntifications database More...PRIDEi | P10275. |
Consortium for Top Down Proteomics More...TopDownProteomicsi | P10275-1. [P10275-1] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P10275. |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P10275. |
SwissPalm database of S-palmitoylation events More...SwissPalmi | P10275. |
Miscellaneous databases
CutDB - Proteolytic event database More...PMAP-CutDBi | B1AKD7. |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="http://www.uniprot.org/uniprot/O14734#expression"><span class="caps">O14734</span></a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.7"Androgen receptor function is modulated by the tissue-specific AR45 variant."
Ahrens-Fath I., Politz O., Geserick C., Haendler B.
FEBS J. 272:74-84(2005) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION. - Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000169083. |
CleanEx database of gene expression profiles More...CleanExi | HS_AR. |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P10275. baseline and differential. |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P10275. HS. |
Organism-specific databases
Human Protein Atlas More...HPAi | CAB000001. CAB065764. HPA065701. |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">‘Interaction’</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">‘Function’</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.22"PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival."
Waragai M., Lammers C.-H., Takeuchi S., Imafuku I., Udagawa Y., Kanazawa I., Kawabata M., Mouradian M.M., Okazawa H.
Hum. Mol. Genet. 8:977-987(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PQBP1. - Ref.23"Cloning and characterization of androgen receptor coactivator, ARA55, in human prostate."
Fujimoto N., Yeh S., Kang H.-Y., Inui S., Chang H.-C., Mizokami A., Chang C.
J. Biol. Chem. 274:8316-8321(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TGFB1I1. - Ref.24"Ubc9 interacts with the androgen receptor and activates receptor-dependent transcription."
Poukka H., Aarnisalo P., Karvonen U., Palvimo J.J., Jaenne O.A.
J. Biol. Chem. 274:19441-19446(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH UBE2I. - Ref.25"The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator."
Hsiao P.-W., Lin D.-L., Nakao R., Chang C.
J. Biol. Chem. 274:20229-20234(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RAN. - Ref.26"PDEF, a novel prostate epithelium-specific ets transcription factor, interacts with the androgen receptor and activates prostate-specific antigen gene expression."
Oettgen P., Finger E., Sun Z., Akbarali Y., Thamrongsak U., Boltax J., Grall F., Dube A., Weiss A., Brown L., Quinn G., Kas K., Endress G., Kunsch C., Libermann T.A.
J. Biol. Chem. 275:1216-1225(2000) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH SPDEF. - Ref.27"Androgen receptor interacts with a novel MYST protein, HBO1."
Sharma M., Zarnegar M., Li X., Lim B., Sun Z.
J. Biol. Chem. 275:35200-35208(2000) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH KAT7. - Ref.29"RanBPM, a nuclear protein that interacts with and regulates transcriptional activity of androgen receptor and glucocorticoid receptor."
Rao M.A., Cheng H., Quayle A.N., Nishitani H., Nelson C.C., Rennie P.S.
J. Biol. Chem. 277:48020-48027(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RANBP9. - Ref.30"Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor."
Zhao Y., Goto K., Saitoh M., Yanase T., Nomura M., Okabe T., Takayanagi R., Nawata H.
J. Biol. Chem. 277:30031-30039(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRPF6. - Ref.31"Estrogen receptor-interacting protein that modulates its nongenomic activity-crosstalk with Src/Erk phosphorylation cascade."
Wong C.-W., McNally C., Nickbarg E., Komm B.S., Cheskis B.J.
Proc. Natl. Acad. Sci. U.S.A. 99:14783-14788(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PELP1. - Ref.32"hZimp10 is an androgen receptor co-activator and forms a complex with SUMO-1 at replication foci."
Sharma M., Li X., Wang Y., Zarnegar M., Huang C.-Y., Palvimo J.J., Lim B., Sun Z.
EMBO J. 22:6101-6114(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH ZMIZ1. - Ref.33"The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway."
Rigas A.C., Ozanne D.M., Neal D.E., Robson C.N.
J. Biol. Chem. 278:46087-46093(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RACK1, SUBCELLULAR LOCATION. - Ref.34"The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity."
Hofman K., Swinnen J.V., Claessens F., Verhoeven G., Heyns W.
J. Mol. Endocrinol. 31:583-596(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH RBAK. - Ref.35"DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex."
Niki T., Takahashi-Niki K., Taira T., Iguchi-Ariga S.M.M., Ariga H.
Mol. Cancer Res. 1:247-261(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH EFCAB6. - Ref.37"Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone receptors."
Mills I.G., Gaughan L., Robson C., Ross T., McCracken S., Kelly J., Neal D.E.
J. Cell Biol. 170:191-200(2005) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH HIP1. - Ref.38"hZimp7, a novel PIAS-like protein, enhances androgen receptor-mediated transcription and interacts with SWI/SNF-like BAF complexes."
Huang C.-Y., Beliakoff J., Li X., Lee J., Li X., Sharma M., Lim B., Sun Z.
Mol. Endocrinol. 19:2915-2929(2005) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH ZMIZ2. - Ref.40"Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells."
Ma A.H., Xia L., Desai S.J., Boucher D.L., Guan Y., Shih H.M., Shi X.B., deVere White R.W., Chen H.W., Tepper C.G., Kung H.J.
Cancer Res. 66:8439-8447(2006) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH MAK, SUBUNIT. - Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION. - Ref.42"The zinc finger protein Ras-responsive element binding protein-1 is a coregulator of the androgen receptor: implications for the role of the Ras pathway in enhancing androgenic signaling in prostate cancer."
Mukhopadhyay N.K., Cinar B., Mukhopadhyay L., Lutchman M., Ferdinand A.S., Kim J., Chung L.W.K., Adam R.M., Ray S.K., Leiter A.B., Richie J.P., Liu B.C.-S., Freeman M.R.
Mol. Endocrinol. 21:2056-2070(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RREB1. - Ref.43"RanBP10 acts as a novel coactivator for the androgen receptor."
Harada N., Yokoyama T., Yamaji R., Nakano Y., Inui H.
Biochem. Biophys. Res. Commun. 368:121-125(2008) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RANBP10. - Ref.44"Activated Cdc42-associated kinase Ack1 promotes prostate cancer progression via androgen receptor tyrosine phosphorylation."
Mahajan N.P., Liu Y., Majumder S., Warren M.R., Parker C.E., Mohler J.L., Earp H.S., Whang Y.E.
Proc. Natl. Acad. Sci. U.S.A. 104:8438-8443(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TNK2, PHOSPHORYLATION AT TYR-269 AND TYR-365 BY TNK2, MUTAGENESIS OF TYR-269 AND TYR-365. - Ref.45"TRIM68 regulates ligand-dependent transcription of androgen receptor in prostate cancer cells."
Miyajima N., Maruyama S., Bohgaki M., Kano S., Shigemura M., Shinohara N., Nonomura K., Hatakeyama S.
Cancer Res. 68:3486-3494(2008) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TRIM68. - Ref.46"Leupaxin, a novel coactivator of the androgen receptor, is expressed in prostate cancer and plays a role in adhesion and invasion of prostate carcinoma cells."
Kaulfuss S., Grzmil M., Hemmerlein B., Thelen P., Schweyer S., Neesen J., Bubendorf L., Glass A.G., Jarry H., Auber B., Burfeind P.
Mol. Endocrinol. 22:1606-1621(2008) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH LPXN. - Ref.47"ZIP kinase plays a crucial role in androgen receptor-mediated transcription."
Leister P., Felten A., Chasan A.I., Scheidtmann K.H.
Oncogene 27:3292-3300(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH ZIPK/DAPK3. - Ref.48"TRIM24 mediates ligand-dependent activation of androgen receptor and is repressed by a bromodomain-containing protein, BRD7, in prostate cancer cells."
Kikuchi M., Okumura F., Tsukiyama T., Watanabe M., Miyajima N., Tanaka J., Imamura M., Hatakeyama S.
Biochim. Biophys. Acta 1793:1828-1836(2009) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TRIM24. - Ref.49"Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination."
Xu K., Shimelis H., Linn D.E., Jiang R., Yang X., Sun F., Guo Z., Chen H., Li W., Chen H., Kong X., Melamed J., Fang S., Xiao Z., Veenstra T.D., Qiu Y.
Cancer Cell 15:270-282(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, POLYUBIQUITINATION AT LYS-846 AND LYS-848 BY RNF6, MUTAGENESIS OF LYS-846 AND LYS-848, INTERACTION WITH RNF14 AND RNF6, SUBCELLULAR LOCATION. - Ref.50"CDK9 regulates AR promoter selectivity and cell growth through serine 81 phosphorylation."
Gordon V., Bhadel S., Wunderlich W., Zhang J., Ficarro S.B., Mollah S.A., Shabanowitz J., Hunt D.F., Xenarios I., Hahn W.C., Conaway M., Carey M.F., Gioeli D.
Mol. Endocrinol. 24:2267-2280(2010) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN AR KINASE, PHOSPHORYLATION AT SER-83 BY CDK9, MUTAGENESIS OF SER-83, INTERACTION WITH CDK9. - Ref.51"The deubiquitinating enzyme USP26 is a regulator of androgen receptor signaling."
Dirac A.M., Bernards R.
Mol. Cancer Res. 8:844-854(2010) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION, DEUBIQUITINATION, INTERACTION WITH USP26. - Ref.53"MST1 is a multifunctional caspase-independent inhibitor of androgenic signaling."
Cinar B., Collak F.K., Lopez D., Akgul S., Mukhopadhyay N.K., Kilicarslan M., Gioeli D.G., Freeman M.R.
Cancer Res. 71:4303-4313(2011) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-651, INTERACTION WITH STK4/MST1. - Ref.54"Cryptochromes mediate rhythmic repression of the glucocorticoid receptor."
Lamia K.A., Papp S.J., Yu R.T., Barish G.D., Uhlenhaut N.H., Jonker J.W., Downes M., Evans R.M.
Nature 480:552-556(2011) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH CRY1. - Ref.57"CCAR1 promotes chromatin loading of androgen receptor (AR) transcription complex by stabilizing the association between AR and GATA2."
Seo W.Y., Jeong B.C., Yu E.J., Kim H.J., Kim S.H., Lim J.E., Kwon G.Y., Lee H.M., Kim J.H.
Nucleic Acids Res. 41:8526-8536(2013) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH CCAR1 AND GATA2. - Ref.61"Structural basis for androgen receptor interdomain and coactivator interactions suggests a transition in nuclear receptor activation function dominance."
He B., Gampe R.T. Jr., Kole A.J., Hnat A.T., Stanley T.B., An G., Stewart E.L., Kalman R.I., Minges J.T., Wilson E.M.
Mol. Cell 16:425-438(2004) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.89 ANGSTROMS) OF 672-920 IN COMPLEXES WITH N-TERMINAL MODULATING DOMAIN AND NCOA2, INTERACTION WITH NCOA1, CHARACTERIZATION OF VARIANT PROSTATE CANCER MET-731. - Ref.62"The molecular mechanisms of coactivator utilization in ligand-dependent transactivation by the androgen receptor."
Estebanez-Perpina E., Moore J.M.R., Mar E., Delgado-Rodrigues E., Nguyen P., Baxter J.D., Buehrer B.M., Webb P., Fletterick R.J., Guy R.K.
J. Biol. Chem. 280:8060-8068(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.66 ANGSTROMS) OF 670-920 IN COMPLEXES WITH DIHYDROTESTOSTERONE AND NCOA1; NCOA2; NCOA3 AND NCOA4, FUNCTION, INTERACTION WITH NCOA1; NCOA2; NCOA3 AND NCOA4, MUTAGENESIS OF LYS-721 AND GLU-898. - Ref.65"Interaction between the androgen receptor and a segment of its corepressor SHP."
Jouravel N., Sablin E., Arnold L.A., Guy R.K., Fletterick R.J.
Acta Crystallogr. D 63:1198-1200(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 672-919 IN COMPLEX WITH NR0B2. - Ref.66"Crystal structure of the T877A human androgen receptor ligand-binding domain complexed to cyproterone acetate provides insight for ligand-induced conformational changes and structure-based drug design."
Bohl C.E., Wu Z., Miller D.D., Bell C.E., Dalton J.T.
J. Biol. Chem. 282:13648-13655(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 671-919 OF MUTANT ALA-878 IN COMPLEX WITH THE ANTIANDROGEN CYPROTERONE ACETATE, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-878, MUTAGENESIS OF LEU-702. - Ref.67"Modulation of androgen receptor activation function 2 by testosterone and dihydrotestosterone."
Askew E.B., Gampe R.T. Jr., Stanley T.B., Faggart J.L., Wilson E.M.
J. Biol. Chem. 282:25801-25816(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 663-919 OF WILD-TYPE AND MUTANT TYR-875 IN COMPLEX WITH TESTOSTERONE AND NCOA2, ACTIVATION BY THE N-TERMINAL MODULATING DOMAIN, INTERACTION WITH NCOA2 AND MAGEA11, FUNCTION, MUTAGENESIS OF LYS-721 AND GLU-898, CHARACTERIZATION OF VARIANT PROSTATE CANCER TYR-875. - Ref.68"Structural characterization of the human androgen receptor ligand-binding domain complexed with EM5744, a rationally designed steroidal ligand bearing a bulky chain directed toward helix 12."
Cantin L., Faucher F., Couture J.-F., de Jesus-Tran K.P., Legrand P., Ciobanu L.C., Frechette Y., Labrecque R., Singh S.M., Labrie F., Breton R.
J. Biol. Chem. 282:30910-30919(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 655-920 IN COMPLEX WITH EM5744. - Ref.69"A surface on the androgen receptor that allosterically regulates coactivator binding."
Estebanez-Perpina E., Arnold L.A., Nguyen P., Rodrigues E.D., Mar E., Bateman R., Pallai P., Shokat K.M., Baxter J.D., Guy R.K., Webb P., Fletterick R.J.
Proc. Natl. Acad. Sci. U.S.A. 104:16074-16079(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.76 ANGSTROMS) OF 670-920 IN COMPLEXES WITH SYNTHETIC LIGANDS, FUNCTION, INTERACTION WITH NCOA2.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 721 | Interaction with coactivator LXXL motif | 1 | |
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 898 | Interaction with coactivator FXXLF motif | 1 |
<p>This subsection of the ‘Interaction’ section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ATPase binding Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- beta-catenin binding Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- enzyme binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- POU domain binding Source: Ensembl
- protein dimerization activity Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- receptor binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- RNA polymerase II transcription factor binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- transcription factor binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 106862. 241 interactors. |
Database of interacting proteins More...DIPi | DIP-125N. |
Protein interaction database and analysis system More...IntActi | P10275. 108 interactors. |
Molecular INTeraction database More...MINTi | MINT-94801. |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000363822. |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | P10275. |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 22 – 29 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 667 – 669 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 673 – 681 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 692 – 694 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 698 – 721 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 24 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 726 – 728 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 731 – 758 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 28 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 761 – 766 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 769 – 771 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 773 – 778 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 782 – 797 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 16 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 802 – 812 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 11 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 815 – 818 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 825 – 843 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 19 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 844 – 846 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 850 – 852 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 853 – 883 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 31 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 885 – 888 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 894 – 902 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 904 – 908 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
<p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 911 – 914 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 |
3D structure databases
Select the link destinations: Protein Data Bank Europe More...PDBeiProtein Data Bank RCSB More...RCSB PDBiProtein Data Bank Japan More...PDBjiLinks Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1E3G | X-ray | 2.40 | A | 658-920 | [»] | |
1GS4 | X-ray | 1.95 | A | 671-918 | [»] | |
1T5Z | X-ray | 2.30 | A | 670-920 | [»] | |
1T63 | X-ray | 2.07 | A | 670-919 | [»] | |
1T65 | X-ray | 1.66 | A | 670-920 | [»] | |
1XJ7 | X-ray | 2.70 | A | 664-920 | [»] | |
1XOW | X-ray | 1.80 | A | 672-920 | [»] | |
B | 20-30 | [»] | ||||
1XQ3 | X-ray | 2.25 | A | 672-920 | [»] | |
1Z95 | X-ray | 1.80 | A | 673-918 | [»] | |
2AM9 | X-ray | 1.64 | A | 655-920 | [»] | |
2AMA | X-ray | 1.90 | A | 655-920 | [»] | |
2AMB | X-ray | 1.75 | A | 655-920 | [»] | |
2AO6 | X-ray | 1.89 | A | 672-920 | [»] | |
2AX6 | X-ray | 1.50 | A | 665-920 | [»] | |
2AX7 | X-ray | 1.90 | A | 665-920 | [»] | |
2AX8 | X-ray | 1.70 | A | 665-920 | [»] | |
2AX9 | X-ray | 1.65 | A | 665-920 | [»] | |
2AXA | X-ray | 1.80 | A | 665-920 | [»] | |
2HVC | X-ray | 2.10 | A | 670-919 | [»] | |
2OZ7 | X-ray | 1.80 | A | 672-920 | [»] | |
2PIO | X-ray | 2.03 | A | 670-920 | [»] | |
2PIP | X-ray | 1.80 | L | 670-920 | [»] | |
2PIQ | X-ray | 2.40 | A | 670-920 | [»] | |
2PIR | X-ray | 2.10 | A | 670-920 | [»] | |
2PIT | X-ray | 1.76 | A | 670-920 | [»] | |
2PIU | X-ray | 2.12 | A | 670-920 | [»] | |
2PIV | X-ray | 1.95 | A | 670-920 | [»] | |
2PIW | X-ray | 2.58 | A | 670-920 | [»] | |
2PIX | X-ray | 2.40 | A | 670-920 | [»] | |
2PKL | X-ray | 2.49 | A | 670-920 | [»] | |
2PNU | X-ray | 1.65 | A | 655-920 | [»] | |
2Q7I | X-ray | 1.87 | A | 664-920 | [»] | |
B | 20-30 | [»] | ||||
2Q7J | X-ray | 1.90 | A | 664-920 | [»] | |
2Q7K | X-ray | 1.80 | A | 664-920 | [»] | |
B | 20-30 | [»] | ||||
2Q7L | X-ray | 1.92 | A | 664-920 | [»] | |
2YHD | X-ray | 2.20 | A | 672-920 | [»] | |
2YLO | X-ray | 2.50 | A | 665-920 | [»] | |
2YLP | X-ray | 2.30 | A | 665-920 | [»] | |
2YLQ | X-ray | 2.40 | A | 665-920 | [»] | |
2Z4J | X-ray | 2.60 | A | 672-919 | [»] | |
3B5R | X-ray | 1.80 | A | 672-920 | [»] | |
3B65 | X-ray | 1.80 | A | 672-920 | [»] | |
3B66 | X-ray | 1.65 | A | 672-920 | [»] | |
3B67 | X-ray | 1.90 | A | 672-920 | [»] | |
3B68 | X-ray | 1.90 | A | 672-920 | [»] | |
3BTR | X-ray | 2.60 | B | 622-636 | [»] | |
3L3X | X-ray | 1.55 | A | 671-919 | [»] | |
3L3Z | X-ray | 2.00 | A | 671-919 | [»] | |
3RLJ | X-ray | 1.90 | A | 672-918 | [»] | |
3RLL | X-ray | 1.70 | A | 672-918 | [»] | |
3V49 | X-ray | 1.70 | A | 655-920 | [»] | |
B | 21-31 | [»] | ||||
3V4A | X-ray | 1.95 | A | 672-920 | [»] | |
B | 21-31 | [»] | ||||
3ZQT | X-ray | 2.29 | A | 665-920 | [»] | |
4HLW | X-ray | 2.50 | A | 665-920 | [»] | |
4K7A | X-ray | 2.44 | A | 671-919 | [»] | |
4OEA | X-ray | 2.12 | A | 671-920 | [»] | |
4OED | X-ray | 2.79 | A | 671-920 | [»] | |
4OEY | X-ray | 1.83 | A | 671-920 | [»] | |
4OEZ | X-ray | 1.80 | A | 671-920 | [»] | |
4OFR | X-ray | 2.26 | A | 671-920 | [»] | |
4OFU | X-ray | 2.12 | A | 671-920 | [»] | |
4OGH | X-ray | 2.98 | A | 671-920 | [»] | |
4OH5 | X-ray | 2.00 | A | 671-920 | [»] | |
4OH6 | X-ray | 3.56 | A | 671-920 | [»] | |
4OHA | X-ray | 1.42 | A | 671-920 | [»] | |
4OIL | X-ray | 2.51 | A | 671-920 | [»] | |
4OIU | X-ray | 3.01 | A | 671-920 | [»] | |
4OJ9 | X-ray | 3.31 | A | 671-920 | [»] | |
4OJB | X-ray | 2.00 | A | 671-920 | [»] | |
4OK1 | X-ray | 2.09 | A | 671-920 | [»] | |
4OKB | X-ray | 2.95 | A | 671-920 | [»] | |
4OKT | X-ray | 2.50 | A | 671-920 | [»] | |
4OKW | X-ray | 2.00 | A | 671-920 | [»] | |
4OKX | X-ray | 2.10 | A | 671-920 | [»] | |
4OLM | X-ray | 2.80 | A | 671-920 | [»] | |
4QL8 | X-ray | 2.10 | A | 663-920 | [»] | |
5CJ6 | X-ray | 2.07 | A | 642-920 | [»] | |
B | 21-30 | [»] | ||||
5JJM | X-ray | 2.15 | A/B/C/D | 669-920 | [»] | |
5T8E | X-ray | 2.71 | A | 672-920 | [»] | |
5T8J | X-ray | 2.70 | A | 672-920 | [»] | |
Database of protein disorder More...DisProti | DP00492. | |||||
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P10275. | |||||
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P10275. | |||||
Database of comparative protein structure models More...ModBasei | Search... | |||||
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Miscellaneous databases
Relative evolutionary importance of amino acids within a protein sequence More...EvolutionaryTracei | P10275. |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 1 – 559 | ModulatingAdd BLAST | 559 | |
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 552 – 919 | Interaction with LPXN1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 368 | |
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 572 – 662 | Interaction with HIPK3By similarityAdd BLAST | 91 | |
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 592 – 919 | Interaction with CCAR11 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 328 | |
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 625 – 919 | Interaction with KAT71 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 295 | |
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 691 – 919 | Ligand-bindingAdd BLAST | 229 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 58 – 120 | Gln-richAdd BLAST | 63 | |
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 58 – 80 | Poly-GlnAdd BLAST | 23 | |
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 86 – 91 | Poly-Gln | 6 | |
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 195 – 199 | Poly-Gln | 5 | |
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 374 – 383 | Poly-Pro | 10 | |
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 398 – 404 | Poly-Ala | 7 | |
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 451 – 473 | Poly-GlyAdd BLAST | 23 |
<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 560 – 580 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi Add BLAST | 21 | |
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 596 – 620 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi Add BLAST | 25 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
Zinc-fingerPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3575. Eukaryota. ENOG410XRZC. LUCA. |
Ensembl GeneTree More...GeneTreei | ENSGT00760000118887. |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG007583. |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P10275. |
KEGG Orthology (KO) More...KOi | K08557. |
Identification of Orthologs from Complete Genome Data More...OMAi | YGDMRLE. |
Database of Orthologous Groups More...OrthoDBi | EOG091G032J. |
Database for complete collections of gene phylogenies More...PhylomeDBi | P10275. |
TreeFam database of animal gene trees More...TreeFami | TF350286. |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.130.10.10. 1 hit. |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR001103. Andrgn_rcpt. IPR000536. Nucl_hrmn_rcpt_lig-bd. IPR015943. WD40/YVTN_repeat-like_dom. IPR001628. Znf_hrmn_rcpt. |
Pfam protein domain database More...Pfami | View protein in Pfam PF02166. Androgen_recep. 1 hit. PF00104. Hormone_recep. 1 hit. PF00105. zf-C4. 1 hit. |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00521. ANDROGENR. PR00047. STROIDFINGER. |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00430. HOLI. 1 hit. SM00399. ZnF_C4. 1 hit. |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF48508. SSF48508. 1 hit. |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00031. NUCLEAR_REC_DBD_1. 1 hit. PS51030. NUCLEAR_REC_DBD_2. 1 hit. |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i
<p>This subsection of the ‘Sequence’ section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MEVQLGLGRV YPRPPSKTYR GAFQNLFQSV REVIQNPGPR HPEAASAAPP
60 70 80 90 100
GASLLLLQQQ QQQQQQQQQQ QQQQQQQQQQ ETSPRQQQQQ QGEDGSPQAH
110 120 130 140 150
RRGPTGYLVL DEEQQPSQPQ SALECHPERG CVPEPGAAVA ASKGLPQQLP
160 170 180 190 200
APPDEDDSAA PSTLSLLGPT FPGLSSCSAD LKDILSEAST MQLLQQQQQE
210 220 230 240 250
AVSEGSSSGR AREASGAPTS SKDNYLGGTS TISDNAKELC KAVSVSMGLG
260 270 280 290 300
VEALEHLSPG EQLRGDCMYA PLLGVPPAVR PTPCAPLAEC KGSLLDDSAG
310 320 330 340 350
KSTEDTAEYS PFKGGYTKGL EGESLGCSGS AAAGSSGTLE LPSTLSLYKS
360 370 380 390 400
GALDEAAAYQ SRDYYNFPLA LAGPPPPPPP PHPHARIKLE NPLDYGSAWA
410 420 430 440 450
AAAAQCRYGD LASLHGAGAA GPGSGSPSAA ASSSWHTLFT AEEGQLYGPC
460 470 480 490 500
GGGGGGGGGG GGGGGGGGGG GGGEAGAVAP YGYTRPPQGL AGQESDFTAP
510 520 530 540 550
DVWYPGGMVS RVPYPSPTCV KSEMGPWMDS YSGPYGDMRL ETARDHVLPI
560 570 580 590 600
DYYFPPQKTC LICGDEASGC HYGALTCGSC KVFFKRAAEG KQKYLCASRN
610 620 630 640 650
DCTIDKFRRK NCPSCRLRKC YEAGMTLGAR KLKKLGNLKL QEEGEASSTT
660 670 680 690 700
SPTEETTQKL TVSHIEGYEC QPIFLNVLEA IEPGVVCAGH DNNQPDSFAA
710 720 730 740 750
LLSSLNELGE RQLVHVVKWA KALPGFRNLH VDDQMAVIQY SWMGLMVFAM
760 770 780 790 800
GWRSFTNVNS RMLYFAPDLV FNEYRMHKSR MYSQCVRMRH LSQEFGWLQI
810 820 830 840 850
TPQEFLCMKA LLLFSIIPVD GLKNQKFFDE LRMNYIKELD RIIACKRKNP
860 870 880 890 900
TSCSRRFYQL TKLLDSVQPI ARELHQFTFD LLIKSHMVSV DFPEMMAEII
910 920
SVQVPKILSG KVKPIYFHTQ
The sequence of this isoform differs from the canonical sequence as follows:
1-532: Missing.
533-539: GPYGDMR → MILWLHS
10 20 30 40 50
MILWLHSLET ARDHVLPIDY YFPPQKTCLI CGDEASGCHY GALTCGSCKV
60 70 80 90 100
FFKRAAEGKQ KYLCASRNDC TIDKFRRKNC PSCRLRKCYE AGMTLGARKL
110 120 130 140 150
KKLGNLKLQE EGEASSTTSP TEETTQKLTV SHIEGYECQP IFLNVLEAIE
160 170 180 190 200
PGVVCAGHDN NQPDSFAALL SSLNELGERQ LVHVVKWAKA LPGFRNLHVD
210 220 230 240 250
DQMAVIQYSW MGLMVFAMGW RSFTNVNSRM LYFAPDLVFN EYRMHKSRMY
260 270 280 290 300
SQCVRMRHLS QEFGWLQITP QEFLCMKALL LFSIIPVDGL KNQKFFDELR
310 320 330 340 350
MNYIKELDRI IACKRKNPTS CSRRFYQLTK LLDSVQPIAR ELHQFTFDLL
360 370 380
IKSHMVSVDF PEMMAEIISV QVPKILSGKV KPIYFHTQ
The sequence of this isoform differs from the canonical sequence as follows:
629-644: ARKLKKLGNLKLQEEG → EKFRVGNCKHLKMTRP
645-920: Missing.
10 20 30 40 50
MEVQLGLGRV YPRPPSKTYR GAFQNLFQSV REVIQNPGPR HPEAASAAPP
60 70 80 90 100
GASLLLLQQQ QQQQQQQQQQ QQQQQQQQQQ ETSPRQQQQQ QGEDGSPQAH
110 120 130 140 150
RRGPTGYLVL DEEQQPSQPQ SALECHPERG CVPEPGAAVA ASKGLPQQLP
160 170 180 190 200
APPDEDDSAA PSTLSLLGPT FPGLSSCSAD LKDILSEAST MQLLQQQQQE
210 220 230 240 250
AVSEGSSSGR AREASGAPTS SKDNYLGGTS TISDNAKELC KAVSVSMGLG
260 270 280 290 300
VEALEHLSPG EQLRGDCMYA PLLGVPPAVR PTPCAPLAEC KGSLLDDSAG
310 320 330 340 350
KSTEDTAEYS PFKGGYTKGL EGESLGCSGS AAAGSSGTLE LPSTLSLYKS
360 370 380 390 400
GALDEAAAYQ SRDYYNFPLA LAGPPPPPPP PHPHARIKLE NPLDYGSAWA
410 420 430 440 450
AAAAQCRYGD LASLHGAGAA GPGSGSPSAA ASSSWHTLFT AEEGQLYGPC
460 470 480 490 500
GGGGGGGGGG GGGGGGGGGG GGGEAGAVAP YGYTRPPQGL AGQESDFTAP
510 520 530 540 550
DVWYPGGMVS RVPYPSPTCV KSEMGPWMDS YSGPYGDMRL ETARDHVLPI
560 570 580 590 600
DYYFPPQKTC LICGDEASGC HYGALTCGSC KVFFKRAAEG KQKYLCASRN
610 620 630 640
DCTIDKFRRK NCPSCRLRKC YEAGMTLGEK FRVGNCKHLK MTRP
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
The sequence of this isoform differs from the canonical sequence as follows:
630-648: RKLKKLGNLKLQEEGEASS → AVVVSERILRVFGVSEWLP
649-920: Missing.
10 20 30 40 50
MEVQLGLGRV YPRPPSKTYR GAFQNLFQSV REVIQNPGPR HPEAASAAPP
60 70 80 90 100
GASLLLLQQQ QQQQQQQQQQ QQQQQQQQQQ ETSPRQQQQQ QGEDGSPQAH
110 120 130 140 150
RRGPTGYLVL DEEQQPSQPQ SALECHPERG CVPEPGAAVA ASKGLPQQLP
160 170 180 190 200
APPDEDDSAA PSTLSLLGPT FPGLSSCSAD LKDILSEAST MQLLQQQQQE
210 220 230 240 250
AVSEGSSSGR AREASGAPTS SKDNYLGGTS TISDNAKELC KAVSVSMGLG
260 270 280 290 300
VEALEHLSPG EQLRGDCMYA PLLGVPPAVR PTPCAPLAEC KGSLLDDSAG
310 320 330 340 350
KSTEDTAEYS PFKGGYTKGL EGESLGCSGS AAAGSSGTLE LPSTLSLYKS
360 370 380 390 400
GALDEAAAYQ SRDYYNFPLA LAGPPPPPPP PHPHARIKLE NPLDYGSAWA
410 420 430 440 450
AAAAQCRYGD LASLHGAGAA GPGSGSPSAA ASSSWHTLFT AEEGQLYGPC
460 470 480 490 500
GGGGGGGGGG GGGGGGGGGG GGGEAGAVAP YGYTRPPQGL AGQESDFTAP
510 520 530 540 550
DVWYPGGMVS RVPYPSPTCV KSEMGPWMDS YSGPYGDMRL ETARDHVLPI
560 570 580 590 600
DYYFPPQKTC LICGDEASGC HYGALTCGSC KVFFKRAAEG KQKYLCASRN
610 620 630 640
DCTIDKFRRK NCPSCRLRKC YEAGMTLGAA VVVSERILRV FGVSEWLP
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 168 | G → A in AAA51780 (PubMed:2342476).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 214 | A → R (PubMed:2911578).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 214 | A → R in AAA51771 (PubMed:2293020).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 214 | A → R in AAA51772 (PubMed:2293020).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 476 | G → E in AAA51775 (PubMed:3174628).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 476 | G → E in AAA51770 (PubMed:3353726).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 566 | E → K in AAA51774 (PubMed:3377788).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 635 | L → P in AAB21256 (PubMed:1775137).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 635 | L → P in AAB21257 (PubMed:1775137).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 676 | N → I in AAB21256 (PubMed:1775137).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 676 | N → I in AAB21257 (PubMed:1775137).Curated | 1 | |
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 811 | L → M in AAA51780 (PubMed:2342476).Curated | 1 |
<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">‘Involvement in disease’</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.20"Trinucleotide repeat polymorphism in the androgen receptor gene (AR)."
Sleddens H.F.B.M., Oostra B.A., Brinkmann A.O., Trapman J.
Nucleic Acids Res. 20:1427-1427(1992) [PubMed] [Europe PMC] [Abstract]Cited for: POLYMORPHISM OF POLY-GLN REGION. - Ref.21"The CAG repeat within the androgen receptor gene and its relationship to prostate cancer."
Giovannucci E., Stampfer M.J., Krithivas K., Brown M., Dahl D., Brufsky A., Talcott J., Hennekens C.H., Kantoff P.W.
Proc. Natl. Acad. Sci. U.S.A. 94:3320-3323(1997) [PubMed] [Europe PMC] [Abstract]Cited for: POLYMORPHISM OF POLY-GLN REGION. - Ref.82"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy."
la Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H.
Nature 352:77-79(1991) [PubMed] [Europe PMC] [Abstract]Cited for: POLY-GLN REGION EXPANSION, INVOLVEMENT IN SPINAL AND BULBAR MUSCULAR ATROPHY. - Ref.110"Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer."
Schoenberg M.P., Hakimi J.M., Wang S., Bova G.S., Epstein J.I., Fischbeck K.H., Isaacs W.B., Walsh P.C., Barrack E.R.
Biochem. Biophys. Res. Commun. 198:74-80(1994) [PubMed] [Europe PMC] [Abstract]Cited for: POLY-GLN REGION CONTRACTION, INVOLVEMENT IN PROSTATE CANCER.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.197"Polymorphism of the androgen receptor gene is associated with male pattern baldness."
Ellis J.A., Stebbing M., Harrap S.B.
J. Invest. Dermatol. 116:452-455(2001) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN ANDROGENETIC ALOPECIA, POLYMORPHISM OF POLY-GLY REGION. - Ref.199"Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia."
Hillmer A.M., Hanneken S., Ritzmann S., Becker T., Freudenberg J., Brockschmidt F.F., Flaquer A., Freudenberg-Hua Y., Jamra R.A., Metzen C., Heyn U., Schweiger N., Betz R.C., Blaumeiser B., Hampe J., Schreiber S., Schulze T.G., Hennies H.C. , Schumacher J., Propping P., Ruzicka T., Cichon S., Wienker T.F., Kruse R., Noethen M.M.
Am. J. Hum. Genet. 77:140-148(2005) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN ANDROGENETIC ALOPECIA, POLYMORPHISM OF POLY-GLY REGION.
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004679 | 2 | E → K in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004680 | 54 | L → S in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004681 | 57 | L → Q in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009711 | 64 | Q → R in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009712 | 114 | Q → H in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009713 | 182 | K → R in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009224 | 196 | Q → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009714 | 207 | S → R1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009715 | 216 | G → R Functional polymorphism; 20% lower transactivation capacity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009225 | 257 | L → P in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009716 | 268 | M → T in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009717 | 271 | P → S in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009718 | 342 | P → L in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009226 | 392 | P → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009227 | 392 | P → S in AIS. Corresponds to variant dbSNP:rs201934623Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009228 | 445 | Q → R in AIS; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009719 | 492 | G → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009720 | 529 | D → G in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009721 | 548 | L → F in PAIS. Corresponds to variant dbSNP:rs139524801Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009722 | 549 | P → S in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009723 | 560 | C → Y in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009725 | 569 | G → V in a patient with isolated hypospadias. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009726 | 569 | G → W in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009727 | 572 | Y → C in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009728 | 574 | A → D in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009729 | 575 | L → P in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009730 | 576 | T → A in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009731 | 577 | C → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009732 | 577 | C → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009733 | 580 | C → F in AIS; reduced transcription and DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009734 | 580 | C → Y in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009735 | 581 | K → R in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009736 | 582 | V → F in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009737 | 583 | F → S in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009738 | 583 | F → Y in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009739 | 583 | Missing in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009740 | 586 | R → K in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009741 | 587 | A → V in prostate cancer; somatic mutation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009742 | 588 | A → S in prostate cancer; somatic mutation. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009743 | 597 | A → T in AIS; abolishes dimerization. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009744 | 598 | S → G in PAIS; associated with P-618 in a PAIS patient; normal androgen binding; does not activate transcription; impairs DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009745 | 598 | S → T in a patient with severe hypospadias. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009746 | 602 | C → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009747 | 605 | D → Y in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004684 | 608 | R → Q in PAIS and breast cancer. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004685 | 609 | R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009748 | 611 | N → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009749 | 612 | C → Y in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009751 | 616 | R → H in AIS and PAIS. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009752 | 616 | R → P in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009750 | 616 | Missing in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009753 | 617 | L → P in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009754 | 617 | L → R in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009755 | 618 | R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009756 | 620 | C → Y in prostate cancer; loss of DNA binding; somatic mutation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009757 | 630 | R → Q in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009758 | 631 | K → T in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004686 | 646 | A → D1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009760 | 648 | S → N in prostate cancer. Corresponds to variant dbSNP:rs137852584Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004687 | 665 | I → N in AIS and PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009761 | 671 | Q → R in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009762 | 672 | P → H in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009763 | 673 | I → T in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004688 | 678 | L → P in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009764 | 682 | E → K in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013474 | 683 | P → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009765 | 684 | G → A in prostate cancer. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009766 | 685 | V → I in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009767 | 687 | C → R in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009768 | 688 | A → V in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009769 | 689 | G → E in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009770 | 691 | Missing in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004689 | 693 | Missing in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004690 | 696 | D → H in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004691 | 696 | D → N in AIS; almost complete loss of androgen binding and transcription activation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004692 | 696 | D → V in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009771 | 701 | L → M in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009772 | 702 | L → F in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009773 | 702 | L → H in AIS and prostate cancer. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009774 | 703 | S → A in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009775 | 704 | S → C in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004693 | 704 | S → G in PAIS and AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009776 | 706 | N → S in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013475 | 706 | N → Y in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004694 | 708 | L → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009777 | 709 | G → A in PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009778 | 709 | G → V in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009779 | 711 | R → T in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013476 | 712 | Q → E in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009780 | 713 | L → F in PAIS. Corresponds to variant dbSNP:rs137852595Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009781 | 716 | V → M in prostate cancer; gain in function. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009782 | 718 | K → E in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009783 | 721 | K → E in prostate cancer; found in bone metastases. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009784 | 722 | A → T in prostate cancer; somatic mutation. Corresponds to variant dbSNP:rs137852583Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009785 | 723 | L → F in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009786 | 724 | P → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009787 | 725 | G → D in AIS and prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009788 | 726 | F → L in a patient with severe hypospadias. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009789 | 727 | R → L in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009790 | 728 | N → K in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009791 | 729 | L → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004695 | 731 | V → M in prostate cancer; increases transcription activation. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004696 | 733 | D → N in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004697 | 733 | D → Y in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009792 | 734 | Q → H in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009793 | 738 | I → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009794 | 742 | W → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004698 | 743 | M → I in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009795 | 743 | M → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013477 | 744 | G → E in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004699 | 744 | G → V in PAIS and AIS. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009796 | 745 | L → F in AIS and prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009797 | 746 | M → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009798 | 747 | V → M in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009799 | 749 | A → D in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009800 | 749 | A → T in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009801 | 749 | A → V in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009802 | 750 | M → I in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004700 | 750 | M → V in PAIS and AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004701 | 751 | G → D in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009803 | 751 | G → S in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009804 | 752 | W → R in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004702 | 753 | R → Q in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009805 | 755 | F → L in PAIS and prostate cancer. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004703 | 755 | F → V in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009806 | 756 | T → A in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009807 | 757 | N → S in PAIS. Corresponds to variant dbSNP:rs141425171Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009808 | 758 | V → A in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009809 | 759 | N → T in PAIS; 50% reduction in transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009810 | 760 | S → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009811 | 760 | S → P in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004704 | 763 | L → F in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004705 | 764 | Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009812 | 764 | Y → H in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009813 | 765 | F → L in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004707 | 766 | A → T in AIS; loss of androgen binding. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009814 | 766 | A → V in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009815 | 767 | P → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009816 | 768 | D → E in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009817 | 769 | L → P in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009818 | 772 | N → H in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009819 | 773 | E → A in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009820 | 773 | E → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004709 | 775 | R → C in AIS; frequent mutation; loss of androgen binding. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004708 | 775 | R → H in AIS and PAIS; almost complete loss of androgen binding. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004710 | 780 | R → W in AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004711 | 781 | M → I in PAIS and AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009821 | 783 | S → N in prostate cancer; somatic mutation. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004712 | 785 | C → Y in AIS; loss of androgen binding and of transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004713 | 788 | M → V in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009822 | 789 | R → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009823 | 791 | L → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009824 | 792 | S → P in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009825 | 794 | E → D1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004714 | 795 | F → S in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004715 | 799 | Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009826 | 807 | C → Y in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004716 | 808 | M → R in AIS; loss of transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009827 | 808 | M → T in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004717 | 808 | M → V in AIS; 25% androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009828 | 813 | L → F in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004718 | 815 | S → N in AIS and PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009829 | 821 | G → A in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009830 | 822 | L → V in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013478 | 828 | F → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009831 | 831 | L → P in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004719 | 832 | R → L in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004720 | 832 | R → Q in AIS; loss of androgen binding. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009832 | 835 | Y → C in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004721 | 841 | R → C in AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004722 | 841 | R → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004723 | 841 | R → H in AIS. 7 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009229 | 841 | R → S in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009833 | 842 | I → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004724 | 843 | I → T in AIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009834 | 847 | R → G in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009835 | 855 | R → K in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004725 | 856 | R → C in AIS. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004726 | 856 | R → H in AIS; strongly reduced transcription activation. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009836 | 857 | F → L in AIS. Corresponds to variant dbSNP:rs137852598Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009837 | 864 | L → R in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009838 | 865 | D → G in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004727 | 865 | D → N in AIS; loss of androgen binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009839 | 866 | S → P in AIS. Corresponds to variant dbSNP:rs137852597Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004728 | 867 | V → E in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004729 | 867 | V → L in PAIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004730 | 867 | V → M in AIS and prostate cancer. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004731 | 870 | I → M in PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009840 | 871 | A → G in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009841 | 871 | A → V in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009842 | 872 | R → G in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013479 | 875 | H → R in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009843 | 875 | H → Y in prostate cancer; increases affinity for testosterone and androgen sensitivity; increased transcription activation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004732 | 878 | T → A in prostate cancer; found in bone metastases; alters receptor specificity so that transcription is activated by antiandrogens such as cyproterone acetate. 9 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009844 | 878 | T → S in prostate cancer. Corresponds to variant dbSNP:rs137852580Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013480 | 880 | D → Y in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009845 | 881 | L → Q in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009846 | 882 | L → V in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009847 | 887 | M → V in AIS. Corresponds to variant dbSNP:rs755226547Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009848 | 890 | V → M in AIS and PAIS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009849 | 891 | D → N in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009850 | 892 | F → L in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004733 | 893 | P → L in AIS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004734 | 896 | M → T in AIS; low androgen binding and transactivation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009851 | 897 | A → T in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009852 | 899 | I → T in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009853 | 903 | Q → R in prostate cancer. Corresponds to variant dbSNP:rs137852582Ensembl. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009854 | 904 | V → M in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009855 | 905 | P → H in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009856 | 905 | P → S in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004735 | 908 | L → F in AIS; almost complete loss of transcription activation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009857 | 910 | G → E in prostate cancer. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009858 | 910 | G → R in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009859 | 911 | K → R in prostate cancer. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009860 | 912 | V → L in PAIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004736 | 914 | P → S in PAIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009861 | 917 | F → L in AIS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009862 | 918 | H → R in AIS. | 1 | |
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009863 | 920 | Q → R in prostate cancer. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_036889 | 1 – 532 | Missing in isoform 2. CuratedAdd BLAST | 532 | |
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_036890 | 533 – 539 | GPYGDMR → MILWLHS in isoform 2. Curated | 7 | |
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_058166 | 629 – 644 | ARKLK…LQEEG → EKFRVGNCKHLKMTRP in isoform 3. Add BLAST | 16 | |
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_058167 | 630 – 648 | RKLKK…GEASS → AVVVSERILRVFGVSEWLP in isoform 4. Add BLAST | 19 | |
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_058168 | 645 – 920 | Missing in isoform 3. Add BLAST | 276 | |
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_058169 | 649 – 920 | Missing in isoform 4. Add BLAST | 272 |
Sequence databases
Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M20132 mRNA. Translation: AAA51729.1. M23263 mRNA. Translation: AAA51775.1. M27430 , M27423, M27424, M27425, M27426, M27427, M27428, M27429 Genomic DNA. Translation: AAA51886.1. M34233 mRNA. Translation: AAA51780.1. M21748 mRNA. Translation: AAA51771.1. M35851 , M35844, M35845, M35846, M35847, M35848, M35849, M35850 Genomic DNA. Translation: AAA51772.1. AX453758 Unassigned DNA. No translation available. FJ235916 mRNA. Translation: ACN39559.1. FJ235917 mRNA. Translation: ACN39560.1. AL049564, AL158016, AL356358 Genomic DNA. Translation: CAI43080.1. AL158016, AL049564, AL356358 Genomic DNA. Translation: CAI40853.1. AL356358, AL049564, AL158016 Genomic DNA. Translation: CAI40496.1. CH471132 Genomic DNA. Translation: EAX05380.1. BC132975 mRNA. Translation: AAI32976.1. L29496 mRNA. Translation: AAA51770.1. U16371 Genomic DNA. Translation: AAB60346.1. M20260 mRNA. Translation: AAA51774.1. S79366 Genomic DNA. Translation: AAB21256.2. S79366 Genomic DNA. Translation: AAB21257.2. |
The Consensus CDS (CCDS) project More...CCDSi | CCDS14387.1. [P10275-1] CCDS43965.1. [P10275-2] |
Protein sequence database of the Protein Information Resource More...PIRi | A39248. |
NCBI Reference Sequences More...RefSeqi | NP_000035.2. NM_000044.4. [P10275-1] NP_001011645.1. NM_001011645.3. [P10275-2] NP_001334990.1. NM_001348061.1. [P10275-3] NP_001334992.1. NM_001348063.1. [P10275-4] NP_001334993.1. NM_001348064.1. |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.76704. |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000374690; ENSP00000363822; ENSG00000169083. [P10275-1] ENST00000396043; ENSP00000379358; ENSG00000169083. [P10275-2] ENST00000504326; ENSP00000421155; ENSG00000169083. [P10275-3] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 367. |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:367. |
UCSC genome browser More...UCSCi | uc004dwv.3. human. [P10275-1] uc011mpf.2. human. |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism, Triplet repeat expansion<p>This section provides links to the UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:100% | UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry. |
90% | UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence). |
50% | UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster. |
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi
Androgen receptor gene mutations database |
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Wikipedia Androgen receptor entry |
X-chromosome gene database, androgen receptor (AR) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M20132 mRNA. Translation: AAA51729.1. M23263 mRNA. Translation: AAA51775.1. M27430 , M27423, M27424, M27425, M27426, M27427, M27428, M27429 Genomic DNA. Translation: AAA51886.1. M34233 mRNA. Translation: AAA51780.1. M21748 mRNA. Translation: AAA51771.1. M35851 , M35844, M35845, M35846, M35847, M35848, M35849, M35850 Genomic DNA. Translation: AAA51772.1. AX453758 Unassigned DNA. No translation available. FJ235916 mRNA. Translation: ACN39559.1. FJ235917 mRNA. Translation: ACN39560.1. AL049564, AL158016, AL356358 Genomic DNA. Translation: CAI43080.1. AL158016, AL049564, AL356358 Genomic DNA. Translation: CAI40853.1. AL356358, AL049564, AL158016 Genomic DNA. Translation: CAI40496.1. CH471132 Genomic DNA. Translation: EAX05380.1. BC132975 mRNA. Translation: AAI32976.1. L29496 mRNA. Translation: AAA51770.1. U16371 Genomic DNA. Translation: AAB60346.1. M20260 mRNA. Translation: AAA51774.1. S79366 Genomic DNA. Translation: AAB21256.2. S79366 Genomic DNA. Translation: AAB21257.2. |
The Consensus CDS (CCDS) project More...CCDSi | CCDS14387.1. [P10275-1] CCDS43965.1. [P10275-2] |
Protein sequence database of the Protein Information Resource More...PIRi | A39248. |
NCBI Reference Sequences More...RefSeqi | NP_000035.2. NM_000044.4. [P10275-1] NP_001011645.1. NM_001011645.3. [P10275-2] NP_001334990.1. NM_001348061.1. [P10275-3] NP_001334992.1. NM_001348063.1. [P10275-4] NP_001334993.1. NM_001348064.1. |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.76704. |
3D structure databases
Select the link destinations: Protein Data Bank Europe More...PDBeiProtein Data Bank RCSB More...RCSB PDBiProtein Data Bank Japan More...PDBjiLinks Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1E3G | X-ray | 2.40 | A | 658-920 | [»] | |
1GS4 | X-ray | 1.95 | A | 671-918 | [»] | |
1T5Z | X-ray | 2.30 | A | 670-920 | [»] | |
1T63 | X-ray | 2.07 | A | 670-919 | [»] | |
1T65 | X-ray | 1.66 | A | 670-920 | [»] | |
1XJ7 | X-ray | 2.70 | A | 664-920 | [»] | |
1XOW | X-ray | 1.80 | A | 672-920 | [»] | |
B | 20-30 | [»] | ||||
1XQ3 | X-ray | 2.25 | A | 672-920 | [»] | |
1Z95 | X-ray | 1.80 | A | 673-918 | [»] | |
2AM9 | X-ray | 1.64 | A | 655-920 | [»] | |
2AMA | X-ray | 1.90 | A | 655-920 | [»] | |
2AMB | X-ray | 1.75 | A | 655-920 | [»] | |
2AO6 | X-ray | 1.89 | A | 672-920 | [»] | |
2AX6 | X-ray | 1.50 | A | 665-920 | [»] | |
2AX7 | X-ray | 1.90 | A | 665-920 | [»] | |
2AX8 | X-ray | 1.70 | A | 665-920 | [»] | |
2AX9 | X-ray | 1.65 | A | 665-920 | [»] | |
2AXA | X-ray | 1.80 | A | 665-920 | [»] | |
2HVC | X-ray | 2.10 | A | 670-919 | [»] | |
2OZ7 | X-ray | 1.80 | A | 672-920 | [»] | |
2PIO | X-ray | 2.03 | A | 670-920 | [»] | |
2PIP | X-ray | 1.80 | L | 670-920 | [»] | |
2PIQ | X-ray | 2.40 | A | 670-920 | [»] | |
2PIR | X-ray | 2.10 | A | 670-920 | [»] | |
2PIT | X-ray | 1.76 | A | 670-920 | [»] | |
2PIU | X-ray | 2.12 | A | 670-920 | [»] | |
2PIV | X-ray | 1.95 | A | 670-920 | [»] | |
2PIW | X-ray | 2.58 | A | 670-920 | [»] | |
2PIX | X-ray | 2.40 | A | 670-920 | [»] | |
2PKL | X-ray | 2.49 | A | 670-920 | [»] | |
2PNU | X-ray | 1.65 | A | 655-920 | [»] | |
2Q7I | X-ray | 1.87 | A | 664-920 | [»] | |
B | 20-30 | [»] | ||||
2Q7J | X-ray | 1.90 | A | 664-920 | [»] | |
2Q7K | X-ray | 1.80 | A | 664-920 | [»] | |
B | 20-30 | [»] | ||||
2Q7L | X-ray | 1.92 | A | 664-920 | [»] | |
2YHD | X-ray | 2.20 | A | 672-920 | [»] | |
2YLO | X-ray | 2.50 | A | 665-920 | [»] | |
2YLP | X-ray | 2.30 | A | 665-920 | [»] | |
2YLQ | X-ray | 2.40 | A | 665-920 | [»] | |
2Z4J | X-ray | 2.60 | A | 672-919 | [»] | |
3B5R | X-ray | 1.80 | A | 672-920 | [»] | |
3B65 | X-ray | 1.80 | A | 672-920 | [»] | |
3B66 | X-ray | 1.65 | A | 672-920 | [»] | |
3B67 | X-ray | 1.90 | A | 672-920 | [»] | |
3B68 | X-ray | 1.90 | A | 672-920 | [»] | |
3BTR | X-ray | 2.60 | B | 622-636 | [»] | |
3L3X | X-ray | 1.55 | A | 671-919 | [»] | |
3L3Z | X-ray | 2.00 | A | 671-919 | [»] | |
3RLJ | X-ray | 1.90 | A | 672-918 | [»] | |
3RLL | X-ray | 1.70 | A | 672-918 | [»] | |
3V49 | X-ray | 1.70 | A | 655-920 | [»] | |
B | 21-31 | [»] | ||||
3V4A | X-ray | 1.95 | A | 672-920 | [»] | |
B | 21-31 | [»] | ||||
3ZQT | X-ray | 2.29 | A | 665-920 | [»] | |
4HLW | X-ray | 2.50 | A | 665-920 | [»] | |
4K7A | X-ray | 2.44 | A | 671-919 | [»] | |
4OEA | X-ray | 2.12 | A | 671-920 | [»] | |
4OED | X-ray | 2.79 | A | 671-920 | [»] | |
4OEY | X-ray | 1.83 | A | 671-920 | [»] | |
4OEZ | X-ray | 1.80 | A | 671-920 | [»] | |
4OFR | X-ray | 2.26 | A | 671-920 | [»] | |
4OFU | X-ray | 2.12 | A | 671-920 | [»] | |
4OGH | X-ray | 2.98 | A | 671-920 | [»] | |
4OH5 | X-ray | 2.00 | A | 671-920 | [»] | |
4OH6 | X-ray | 3.56 | A | 671-920 | [»] | |
4OHA | X-ray | 1.42 | A | 671-920 | [»] | |
4OIL | X-ray | 2.51 | A | 671-920 | [»] | |
4OIU | X-ray | 3.01 | A | 671-920 | [»] | |
4OJ9 | X-ray | 3.31 | A | 671-920 | [»] | |
4OJB | X-ray | 2.00 | A | 671-920 | [»] | |
4OK1 | X-ray | 2.09 | A | 671-920 | [»] | |
4OKB | X-ray | 2.95 | A | 671-920 | [»] | |
4OKT | X-ray | 2.50 | A | 671-920 | [»] | |
4OKW | X-ray | 2.00 | A | 671-920 | [»] | |
4OKX | X-ray | 2.10 | A | 671-920 | [»] | |
4OLM | X-ray | 2.80 | A | 671-920 | [»] | |
4QL8 | X-ray | 2.10 | A | 663-920 | [»] | |
5CJ6 | X-ray | 2.07 | A | 642-920 | [»] | |
B | 21-30 | [»] | ||||
5JJM | X-ray | 2.15 | A/B/C/D | 669-920 | [»] | |
5T8E | X-ray | 2.71 | A | 672-920 | [»] | |
5T8J | X-ray | 2.70 | A | 672-920 | [»] | |
Database of protein disorder More...DisProti | DP00492. | |||||
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P10275. | |||||
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P10275. | |||||
Database of comparative protein structure models More...ModBasei | Search... | |||||
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 106862. 241 interactors. |
Database of interacting proteins More...DIPi | DIP-125N. |
Protein interaction database and analysis system More...IntActi | P10275. 108 interactors. |
Molecular INTeraction database More...MINTi | MINT-94801. |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000363822. |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | P10275. |
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1871. |
Drug and drug target database More...DrugBanki | DB02932. (2r)-N-[4-Cyano-3-(Trifluoromethyl)Phenyl]-3-[(4-Fluorophenyl)Sulfonyl]-2-Hydroxy-2-Methylpropanamide. DB07422. (2S)-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]-3-(pentafluorophenoxy)propanamide. DB07419. (2S)-3-(4-chloro-3-fluorophenoxy)-N-[4-cyano-3-(trifluoromethyl)phenyl]-2-hydroxy-2-methylpropanamide. DB07423. (2S)-3-[4-(acetylamino)phenoxy]-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propanamide. DB07039. (2S)-N-(4-cyano-3-iodophenyl)-3-(4-cyanophenoxy)-2-hydroxy-2-methylpropanamide. DB07454. (R)-3-BROMO-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE. DB01128. Bicalutamide. DB01541. Boldenone. DB01564. Calusterone. DB04839. Cyproterone acetate. DB01406. Danazol. DB01481. Delta1-dihydrotestosterone. DB02901. Dihydrotestosterone. DB01395. Drospirenone. DB00858. Drostanolone. DB08899. Enzalutamide. DB13155. Esculin. DB00687. Fludrocortisone. DB02266. Flufenamic Acid. DB01185. Fluoxymesterone. DB00499. Flutamide. DB01026. Ketoconazole. DB00367. Levonorgestrel. DB05234. LGD2941. DB05094. MDV3100. DB06710. Methyltestosterone. DB02998. Methyltrienolone. DB08804. Nandrolone decanoate. DB00984. Nandrolone phenpropionate. DB00665. Nilutamide. DB09389. Norgestrel. DB00621. Oxandrolone. DB06412. Oxymetholone. DB01708. Prasterone. DB07769. S-3-(4-FLUOROPHENOXY)-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE. DB00421. Spironolactone. DB00624. Testosterone. DB01420. Testosterone Propionate. DB08867. Ulipristal. |
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 628. |
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000001553. |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P10275. |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P10275. |
SwissPalm database of S-palmitoylation events More...SwissPalmi | P10275. |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | AR. |
Domain mapping of disease mutations (DMDM) More...DMDMi | 113830. |
Proteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | P10275. |
MaxQB - The MaxQuant DataBase More...MaxQBi | P10275. |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P10275. |
PeptideAtlas More...PeptideAtlasi | P10275. |
PRoteomics IDEntifications database More...PRIDEi | P10275. |
Consortium for Top Down Proteomics More...TopDownProteomicsi | P10275-1. [P10275-1] |
Protocols and materials databases
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000374690; ENSP00000363822; ENSG00000169083. [P10275-1] ENST00000396043; ENSP00000379358; ENSG00000169083. [P10275-2] ENST00000504326; ENSP00000421155; ENSG00000169083. [P10275-3] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 367. |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:367. |
UCSC genome browser More...UCSCi | uc004dwv.3. human. [P10275-1] uc011mpf.2. human. |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 367. |
DisGeNET More...DisGeNETi | 367. |
GeneCards: human genes, protein and diseases More...GeneCardsi | AR. |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | AR. |
H-Invitational Database, human transcriptome db More...H-InvDBi | HIX0056152. |
Human Gene Nomenclature Database More...HGNCi | HGNC:644. AR. |
Human Protein Atlas More...HPAi | CAB000001. CAB065764. HPA065701. |
MalaCards human disease database More...MalaCardsi | AR. |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 300068. phenotype. 312300. phenotype. 313200. phenotype. 313700. gene. |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P10275. |
Open Targets More...OpenTargetsi | ENSG00000169083. |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 99429. Complete androgen insensitivity syndrome. 440. Familial hypospadias. 481. Kennedy disease. 90797. Partial androgen insensitivity syndrome. |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA57. |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3575. Eukaryota. ENOG410XRZC. LUCA. |
Ensembl GeneTree More...GeneTreei | ENSGT00760000118887. |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG007583. |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P10275. |
KEGG Orthology (KO) More...KOi | K08557. |
Identification of Orthologs from Complete Genome Data More...OMAi | YGDMRLE. |
Database of Orthologous Groups More...OrthoDBi | EOG091G032J. |
Database for complete collections of gene phylogenies More...PhylomeDBi | P10275. |
TreeFam database of animal gene trees More...TreeFami | TF350286. |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-3371497. HSP90 chaperone cycle for steroid hormone receptors (SHR). R-HSA-383280. Nuclear Receptor transcription pathway. R-HSA-5625886. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. R-HSA-5689880. Ub-specific processing proteases. |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | P10275. |
SIGNOR Signaling Network Open Resource More...SIGNORi | P10275. |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | AR. human. |
Relative evolutionary importance of amino acids within a protein sequence More...EvolutionaryTracei | P10275. |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | Androgen_receptor. |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 367. |
CutDB - Proteolytic event database More...PMAP-CutDBi | B1AKD7. |
Protein Ontology More...PROi | PR:P10275. |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000169083. |
CleanEx database of gene expression profiles More...CleanExi | HS_AR. |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P10275. baseline and differential. |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P10275. HS. |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.130.10.10. 1 hit. |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR001103. Andrgn_rcpt. IPR000536. Nucl_hrmn_rcpt_lig-bd. IPR015943. WD40/YVTN_repeat-like_dom. IPR001628. Znf_hrmn_rcpt. |
Pfam protein domain database More...Pfami | View protein in Pfam PF02166. Androgen_recep. 1 hit. PF00104. Hormone_recep. 1 hit. PF00105. zf-C4. 1 hit. |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00521. ANDROGENR. PR00047. STROIDFINGER. |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00430. HOLI. 1 hit. SM00399. ZnF_C4. 1 hit. |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF48508. SSF48508. 1 hit. |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00031. NUCLEAR_REC_DBD_1. 1 hit. PS51030. NUCLEAR_REC_DBD_2. 1 hit. |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | ANDR_HUMAN | |
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | P10275Primary (citable) accession number: P10275 Secondary accession number(s): A0A0B4J1T2 , A2RUN2, B1AKD7, C0JKD3, C0JKD4, E7EVX6, Q9UD95 | |
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1989 |
Last sequence update: | March 16, 2016 | |
Last modified: | July 5, 2017 | |
This is version 252 of the entry and version 3 of the sequence. See complete history. | ||
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families