Last updated:01/09/2010
Introduction
to
androgen
receptor
gene mutations
New &
VERY 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 prove the pathogenicity
of the
putatative mutation, by showing that the mutation when transfected into
a
suitable expression system produces a mutant androgen
receptor protein.
pdf
version
of
Database
of Androgen Receptor Gene Mutations.
NUCLEOTIDE AND AMINO
ACID NUMBERING: The
nucleotide and amino acid
numbering
system in
the database is based on the
Genbank mRNA sequence M20132.1 whose numbering system differs
slightly from NCBI reference sequence
NM_00044.2
Differences due to: 1. Open reading frame starts at nucleotide 363 instead of
1116.
2. Polyglutamine tract two shorter (21 instead of 23 glutamines)
and one polyglycine
tract longer (25
instead of
24 glycines).
The
sequence was originally published by Lubahn at al. (Mol
Endocrinol 2:1265-75, 1988).
NB: This database
is updated
approximately once a month
Phenotypes
in orange indicate a somatic mutation. Mutations showing
variable expressivity are in green. Normal phenotypes are shown in blue.
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,
Sir Mortimer B. Davis Jewish General Hospital
Montreal,Quebec, Canada
