PARK2 Cys431Phe Mutation Details

(Table Legend)

Gene

PARK2

Name

g.1382598G>C (relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478)
g.1382598G>T (relative to nt1 in NG_008289.1)

Alias

Cys431Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TGC to TTC

Details

Genomic

cDNA

Protein

Observed

g.1382598G>T

c.1292G>T

Predicted

p.C431F

Region

EX12

CDS

ring2

Phenotype

Mean of Mean Onset Ages: 24.9y

Frequency

3 Families

Function

No Functional data available

Citations

Maruyama M, Ann Neurol 48: 245-50, 2000
Brooks J, J Med Genet 46: 375-81, 2009

Citation Details

Added: July 1, 2009

ID: 170