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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 |
| Parent Organization: | McGill University; Montreal; Canada |
| Supporting Agency: | Canadian Institutes of Health Research |
| Resource Type(s): | Database, Data repository |
| Keywords: | genitalia, gene, androgen, androgen insensitivity syndrome, androgen receptor, biochemical property, disease, kinetic property, mutation, phenotype, sex-of-rearing, genotype |
| Abbreviation: | AR Mutation DB, AndrogenDB |
| Resource: | Resource |
| URL: | http://androgendb.mcgill.ca/ |
| 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 |
| Id: | nif-0000-02547 |
| Organism: | Human |
| Link to OWL / RDF: | Download this content as OWL/RDF |
Curation status: Curated
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Notes
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Old URL: http://www.mcgill.ca/androgendb/
| Abbrev | AR Mutation DB, AndrogenDB + |
| Address | Lady Davis Institute for Medical Research +, Jewish General Hospital +, Montreal +, Quebec +, and Canada + |
| Availability | The community can contribute to this resource. + |
| CurationStatus | curated + |
| DefiningCitation | http://androgendb.mcgill.ca/ + |
| Definition | Comprehensive 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 role | Database +, and Data repository + |
| Id | nif-0000-02547 + |
| Is part of | McGill University; Montreal; Canada + |
| Keywords | Genitalia +, Gene +, Androgen +, Androgen insensitivity syndrome +, Androgen receptor +, Biochemical property +, Disease +, Kinetic property +, Mutation +, Phenotype +, Sex-of-rearing +, and Genotype + |
| Label | Resource:Androgen Receptor Gene Mutations Database + |
| ModifiedDate | 9 April 2013 + |
| PMID | 22334387, 15146455, 7937057 + |
| Page has default formThis property is a special property in this wiki. | Resource + |
| Related disease | Androgen insensitivity syndrome + |
| Species | Human + |
| SuperCategory | Resource + |
| Supporting Agency | Canadian Institutes of Health Research + |
| Synonym | Androgen Receptor Gene Mutations Database World Wide Web Server + |