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.
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
Additional Resource Types
database, data repository
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
AR Mutation DB, AndrogenDB
Androgen Receptor Gene Mutations Database World Wide Web Server
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Androgen insensitivity syndrome
Created 5 years ago by Anonymous