The Androgen Receptor Gene Mutations Database World Wide Web Server

    The Lady Davis Institute for Medical Research

Last updated: 1st. April 2013


Welcome to the Androgen Receptor Gene Mutations Database World Wide Web Server. This server is for all who are interested in mutations of the Androgen Receptor Gene. Please feel free to send your feedback to bruce.gottlieb@mcgill.ca

IMPORTANT  IF YOU HAVE REFERRED TO THE ANDROGEN RECEPTOR GENE MUTATIONS DATABASE IN AN ARTICLE OR PAPER PLEASE REFERENCE THE LATEST PAPER :
     
Gottlieb B, Beitel LK, Nadarajah A, Palioura M, Trifiro M. 2012. The Androgen Receptor Gene Mutations Database(ARDB):2012 Update Human Mutation 33:887-894.

Introduction to androgen receptor gene mutations

 
  NEW IMPORTANT: 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 curator also strongly suggests that where possible,  particularly in the case of  new unique mutations that an  attempt be made to at least confirm the pathogenicity   of the putatative mutation, by showing that the mutation when transfected into a suitable expression system produces a mutant androgen receptor protein.

NEW MUTATIONS:  data should follow the categories listed in the database using the numbering scheme described below and can be submitted to the curator by e-mail at  bruce.gottlieb@mcgill.ca

A pdf version of the  Database of Androgen Receptor Gene Mutations is available for download.

New A version of the  Database of Androgen Receptor Gene Mutations in Excel format is available for download.

A fully searchable version of the  Database of Androgen Receptor Gene Mutations in FileMakerPro is available for download

NB:  In the pdf and Excel format databasesphenotypes in orange indicate a somatic mutation, mutations showing variable expressivity are in green and  normal phenotypes are shown in blue.

VERY IMPORTANT: NUCLEOTIDE AND AMINO ACID NUMBERING: The nucleotide and amino acid numbering system in the database ha now been changed and is now  based  on  NCBI  reference sequence NM_000044.2  rather than the Genbank mRNA sequence M20132.1. Note that the new numbering system differs slightly from the one used previously.

  Differences due to: 1. Open reading frame starts at nucleotide 1116 instead of 363.
                                          2. Polyglutamine tract 
two longer (23 instead of 21 glutamines)  and one polyglycine tract shorter (23 instead of 24)
                                3. Length of AR protein is now one amino acid longer (920 instead of 919 aa).
                             
   4. Thus the codon number will change by either +2 from codons 78-471 (new codons 80-473) or +1 from 473-919 (new 474-920).
                              
5. The nucleotide numbering will change by +753 from codons 1-77, +759 from 78-471, or +756 from  473-919.
HGVS Nomenclature: The c. prefix (as used in the Excel version of the database) is only used for variant descriptions that count from the A of the ATG at which translation                                                                       initiates.
  New An additional column has been added that contains the HGVS nt position (in blue) and HGVS nt change (in green).

NB: The database is updated approximately once a  month   

New Database  of all known  Androgen Receptor-Interacting Proteins now contains details of the regions of  of interaction  and a complete list of linked references.

  New Summary table  of Androgen Receptor-Interacting Proteins

Related resources:

Related articles:

Links to Related web sites

Lady Davis Institute for Medical Research,
Jewish General Hospital
McGill University
Montreal, Quebec, Canada