Last updated: 10th. September 2014
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 firstname.lastname@example.org
A pdf version of the Database of Androgen Receptor Gene Mutations is available
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).
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
Database of all known Androgen
Receptor-Interacting Proteins now contains details of the regions
of of interaction and a complete list of linked
New Summary table of Androgen Receptor-Interacting Proteins
Links to Related web sites
Lady Davis Institute for Medical
Jewish General Hospital
Montreal, Quebec, Canada