VCP Asn387His Mutation Details

(Table Legend)

Gene

VCP

Name

g.10742A>C (relative to Met1 in Reverse Complement of AL353795.13)
g.16131A>C (relative to nt1 in NG_007887.1)

Alias

Asn387His

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AAC to CAC

Details

Genomic

cDNA

Protein

Observed

g.10742A>C

Predicted

c.1159A>C

p.N387H

Region

EX10

CDS

AAA D1

Phenotype

IBMPFD
Mean of Mean Onset Ages: 45.7y
Mean of Mean Ages at Death: 52.0y

Frequency

1 Family

Function

No Functional data available

Citations

Watts GD, Clinical Genetics 72: 420-426, 2007

Citation Details

Added: December 6, 2007

ID: 395