VCP Arg191Gln Mutation Details

(Table Legend)

Gene

VCP

Name

g.7099G>A (relative to Met1 in Reverse Complement of AL353795.13)
g.12488G>A (relative to nt1 in NG_007887.1)

Alias

Arg191Gln

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGA to CAA

Details

Genomic

cDNA

Protein

Observed

g.7099G>A

Predicted

c.572G>A

p.R191Q

Region

EX5

CDS

Linker 1

Phenotype

IBMPFD
Mean of Mean Onset Ages: 46.4y

Frequency

4 Families

Function

No Functional data available

Citations

Watts GD, Nature Genetics 36: 377-381, 2004
Spina S, Alzheimer's & Dementia 4 Supp 2: T141, 2008
Spina S, Alzheimer's & Dementia 4 Supp 2: T431, 2008
Stojkovic T, Neuromuscular Disorders 19: 316-323, 2009
Shi Z, European Journal of Neurology 19: 501-509, 2012

Citation Details

Added: December 6, 2007
Last Modified: September 11, 2012

ID: 392