VCP Ala439Ser Mutation Details

(Table Legend)

Gene

VCP

Name

g.11295G>T (relative to Met1 in Reverse Complement of AL353795.13)
g.16684G>T (relative to nt1 in NG_007887.1)

Alias

Ala439Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCC to TCC

Details

Genomic

cDNA

Protein

Observed

g.11295G>T

Predicted

c.1315G>T

p.A439S

Region

EX11

CDS

AAA D1

Phenotype

IBMPFD
Mean of Mean Onset Ages: 53.5y

Frequency

1 Family

Function

No Functional data available

Citations

Stojkovic T, Neuromuscular Disorders 19: 316-323, 2009

Citation Details

Added: September 15, 2010

ID: 572