The Androgen Receptor Gene Mutations Database World Wide Web Server

    The Lady Davis Institute for Medical Research

Last updated:19th. September 2011

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 databases,  phenotypes 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.

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:

• Mutation map includes all mutations (both AIS &CaP) 
• New map of mutations in prostatic cancer 
• New table of nature and distribution of unique mutations 
• New table of  diseases associated with CAG tract length variation
• New table of  of multiple and somatic mutations
  
• New table of  mutations with variable phenotypes
  
• New table of  of Lady Davis Institute patients with no AR mutations
  
• 3-D model of androgen receptor

• Article: The Androgen Receptor Gene Mutations Database Nucleic Acids Research 26: 234-238, 1998
• Article:Androgen Insensitivity American Journal of Medical Genetics 89: 210-217, 1999
• Article:The Androgen Receptor Gene Mutations Database(ARDB):2004 Update Human Mutation 23: 527-533, 2004
• Article:Nuclear Receptors and Disease:Androgen Receptor  Essays in Biochemistry 40: 121-136, 2004
• Article:Molecular Pathology of the Androgen Receptor in Male (In)fertility RBMOnline 10: 42-48, 2005
  

Links to Related web sites