arrow

From NeuroLex

Jump to: navigation, search



Resource:Androgen Receptor Gene Mutations Database

Name: Resource:Androgen Receptor Gene Mutations Database
Description: 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.
Other Name(s): Androgen Receptor Gene Mutations Database World Wide Web Server
Abbreviation: AR Mutation DB, AndrogenDB
Parent Organization: McGill University; Montreal; Canada
Supporting Agency: Canadian Institutes of Health Research
Resource Type(s): Database, Data repository
Resource: Resource
URL: http://androgendb.mcgill.ca/
Id: nif-0000-02547
PMID: PMID 22334387, 15146455, 7937057
Related condition/disease: Androgen insensitivity syndrome
Availability: The community can contribute to this resource
Address: Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada
Keywords: genitalia, gene, androgen, androgen insensitivity syndrome, androgen receptor, biochemical property, disease, kinetic property, mutation, phenotype, sex-of-rearing, genotype
Organism: Human
Link to OWL / RDF: Download this content as OWL/RDF

Curation status: Curated

For Resource Owners:

A sitemap will keep your NIF Registry description up-to-date and inform search engines about your resource.

Please login to create the sitemap. (top right)

Learn more about what NIF can do for your resource.
Proudly proclaim your inclusion in NIF by displaying the "Registered with NIF" button on your site.

Notes

This page uses this default form:Resource

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

Contributors

Aarnaud, Akash, Ccdbuser, Nifbot2



bookmark
Facts about Resource:Androgen Receptor Gene Mutations DatabaseRDF feed
AbbrevAR Mutation DB, AndrogenDB  +
AddressLady Davis Institute for Medical Research  +, Jewish General Hospital  +, Montreal  +, Quebec  +, and Canada  +
AvailabilityThe community can contribute to this resource  +
CurationStatuscurated  +
DefiningCitationhttp://androgendb.mcgill.ca/  +
DefinitionComprehensive listing of androgen receptor 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.
of the Database is available for download.
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +, and Data repository  +
Idnif-0000-02547  +
Is part ofMcGill University; Montreal; Canada  +
KeywordsGenitalia  +, Gene  +, Androgen  +, Androgen insensitivity syndrome  +, Androgen receptor  +, Biochemical property  +, Disease  +, Kinetic property  +, Mutation  +, Phenotype  +, Sex-of-rearing  +, and Genotype  +
LabelResource:Androgen Receptor Gene Mutations Database  +
ModifiedDate28 June 2013  +
PMID22334387, 15146455, 7937057  +
Page has default formThis property is a special property in this wiki.Resource  +
Related diseaseAndrogen insensitivity syndrome  +
SpeciesHuman  +
SuperCategoryResource  +
Supporting AgencyCanadian Institutes of Health Research  +
SynonymAndrogen Receptor Gene Mutations Database World Wide Web Server  +