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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

Keywords

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

Old URLs

http://www.mcgill.ca/androgendb/

Species

human

Abbreviation

AR Mutation DB, AndrogenDB

Synonyms

Androgen Receptor Gene Mutations Database World Wide Web Server

Parent Organization

Funding Information

Canadian Institutes of Health Research,

Availability

The community can contribute to this resource

Related Disease

Androgen insensitivity syndrome

Supercategory

Resource

Original Submitter

Anonymous

Version Status

Curated

Submitted On

12:00am September 8, 2010

Originated From

SciCrunch

Changes from Previous Version

  • Description was changed
  • Funding Information was changed
  • Additional Resource Types was changed

Version 2

Created 2 weeks ago by Christie Wang

Version 1

Created 5 years ago by Anonymous

The androgen receptor gene mutations database.

  • Patterson MN
  • Nucleic Acids Res.
  • 1994 8

The androgen receptor gene mutations database is a comprehensive listing of 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. The current version of the database contains 149 entries, of which 114 are unique mutations. The database is available from EMBL (NetServ@EMBL-Heidelberg.DE) or as a Macintosh Filemaker file (mc33001@musica.mcgill.ca).

The androgen receptor gene mutations database (ARDB): 2004 update.

  • Gottlieb B
  • Hum. Mutat.
  • 2004 17

The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 374 to 605, and the number of AR-interacting proteins described has increased from 23 to 70, both over the past 3 years. A 3D model of the AR ligand-binding domain (AR LBD) has been added to give a better understanding of gene structure-function relationships. In addition, silent mutations have now been reported in both androgen insensitivity syndrome (AIS) and prostate cancer (CaP) cases. The database also now 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 is available on the Internet (http://www.mcgill.ca/androgendb/).

The androgen receptor gene mutations database: 2012 update.

  • Gottlieb B
  • Hum. Mutat.
  • 2012 16

The current version of the androgen receptor gene (AR) mutations database is described. A major change to the database is that the nomenclature and numbering scheme now conforms to all Human Genome Variation Society norms. The total number of reported mutations has risen from 605 to 1,029 since 2004. The database now contains a number of mutations that are associated with prostate cancer (CaP) treatment regimens, while the number of AR mutations found in CaP tissues has more than doubled from 76 to 159. In addition, in a number of androgen insensitivity syndrome (AIS) and CaP cases, multiple mutations have been found within the same tissue samples. For the first time, we report on a disconnect within the AIS phenotype-genotype relationship among our own patient database, in that over 40% of our patients with a classic complete AIS or partial AIS phenotypes did not appear to have a mutation in their AR gene. The implications of this phenomenon on future locus-specific mutation database (LSDB) development are discussed, together with the concept that mutations can be associated with both loss- and gain-of-function, and the effect of multiple AR mutations within individuals. The database is available on the internet (http://androgendb.mcgill.ca), and a web-based LSDB with the variants using the Leiden Open Variation Database platform is available at http://www.lovd.nl/AR.