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Androgen Receptor Gene Mutations Database

Comprehensive listing of androgen receptor gene mutations published in journals and meetings proceedings. The majority of mutations are point mutations identified in patients with androgen insensitivity syndrome. Information is included regarding the phenotype, the nature and location of the mutations, as well as the effects of the mutations on the androgen binding activity of the receptor. In light of the difficulty in getting new AR mutations published the curator will now accept new mutations that have not been published, provided that it is from a reputable research or clinical laboratory. The database incorporates information on the exon 1 CAG repeat expansion disease, spinobulbar muscular atrophy (SBMA), as well as CAG repeat length variations associated with risk for female breast, uterine endometrial, colorectal, and prostate cancer, as well as for male infertility. The possible implications of somatic mutations, as opposed to germline mutations, in the development of future locus-specific mutation databases (LSDBs) is discussed.
The database now provides information on the external genitalia and on sex - of - rearing. Additionally, the new version of the database has an entry to show if pathogenicity has been proven. A pdf and fully searchable version of the Database is available for download.

URL: http://androgendb.mcgill.ca/

Resource ID: nif-0000-02547     Resource Type: Resource     Version: Latest Version


genitalia, gene, androgen, androgen insensitivity syndrome, androgen receptor, biochemical property, disease, kinetic property, mutation, phenotype, sex-of-rearing, genotype

Curation Status



The community can contribute to this resource

Related Disease

Androgen insensitivity syndrome




AR Mutation DB, AndrogenDB


Androgen Receptor Gene Mutations Database World Wide Web Server

Parent Organization

Resource PubMed IDs

PMID: 18612376, PMID: 19094205, PMID: 20011049, PMID: 20410220, PMID: 20628607, PMID: 21479595, PMID: 21645389, PMID: 22403669, PMID: 22518120, PMID: 23467468, PMID: 23637914, PMID: 23720649, PMID: 23762728, PMID: 25409505

Resource Status

Last checked up;

Funding Information

Canadian Institutes of Health Research,

Additional Resource Types

database, data repository

Old URLs




Original Submitter


Version Status


Submitted On

12:00am September 8, 2010

Originated From


Changes from Previous Version

First Version

Version 1

Created 5 years ago by Anonymous