Last updated: 10th. September 2014
Introduction to
androgen receptor gene mutations
NEW & IMPORTANT: In light
of the difficulty in getting new AR mutations
published the curator will now acceptnew
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 sequenceNM_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 (23instead of 24)
3. Length of AR protein is now
one amino acid longer (920
instead of 919aa).
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
New
Database of all knownAndrogen
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:
Links to Related web sites
Lady Davis Institute for Medical
Research,
Jewish General Hospital
McGill University
Montreal, Quebec, Canada
