VCP Gly157Arg Mutation Details

(Table Legend)

Gene

VCP

Name

g.6996G>C (relative to Met1 in Reverse Complement of AL353795.13)
g.12385G>C (relative to nt1 in NG_007887.1)

Alias

Gly157Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGG to CGG

Details

Genomic

cDNA

Protein

Observed

g.6996G>C

Predicted

c.469G>C

p.G157R

Region

EX5

CDS

CDC48

Phenotype

IBMPFD / hearing impairment
Mean of Mean Onset Ages: 45.3y
Mean of Mean Ages at Death: 67.0y

Frequency

2 Families

Function

No Functional data available

Citations

Djamshidian A, Muscle & Nerve 39: 389-391, 2009
Stojkovic T, Neuromuscular Disorders 19: 316-323, 2009

Citation Details

Added: March 6, 2009
Last Modified: September 14, 2010

ID: 467