PARK7 Asp149Ala Mutation Details

(Table Legend)

Gene

PARK7

Name

g.33774A>C (relative to nt1 in AL034417.14)
g.28277A>C (relative to nt1 in NG_008271.1)

Alias

Asp149Ala

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAC to GCC

Details

Genomic

cDNA

Protein

Observed

g.33774A>C

Predicted

c.446A>C

p.D149A

Region

EX7

CDS

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 36.0y

Frequency

1 Family

Function

No Functional data available

Citations

Abou-Sleiman PM, Ann Neurol 54: 283-6, 2003

Citation Details

Added: July 31, 2009

ID: 462