Last updated: 1st. April 2013
IMPORTANT IF YOU HAVE REFERRED TO THE
ANDROGEN
RECEPTOR GENE MUTATIONS DATABASE IN AN ARTICLE OR PAPER PLEASE
REFERENCE THE LATEST PAPER :
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).
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
