title: The androgen receptor gene mutations database.
abstract: The current version of the androgen receptor (AR) gene mutations database is described. We have added (if available) data on the androgen binding phenotype of the mutant AR, the clinical phenotype of the affected persons, the family history and whether the pathogenicity of a mutation has been proven. Exonic mutations are now listed in 5'-->3' sequence regardless of type and single base pair changes are presented in codon context. Splice site and intronic mutations are listed separately. The database has allowed us to substantiate and amplify the observation of mutational hot spots within exons encoding the AR androgen binding domain. The database is available from EML (ftp://www.ebi.ac.uk/pub/databases/androgen) or as a Macintosh Filemaker file (MC33@musica.mcgill.ca).
authors.affiliation: Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montreal, Quebec, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Gottlieb
authors.forename: M
authors.initials: M
authors.lastname: Trifiro
authors.forename: R
authors.initials: R
authors.lastname: Lumbroso
authors.forename: D M
authors.initials: DM
authors.lastname: Vasiliou
authors.forename: L
authors.initials: L
authors.lastname: Pinsky
mesh_terms: D000728:Androgens / Q000378:metabolism; D000818:Animals; D003195:Computer Communication Networks; D016208:Databases, Factual; D015226:Dinucleoside Phosphates; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D011485:Protein Binding; D011944:Receptors, Androgen / Q000235:genetics* / Q000378:metabolism
chemical_list: D000728:Androgens; D015226:Dinucleoside Phosphates; D011944:Receptors, Androgen; C015772:CpG dinucleotide