PARK7 Ala104Thr Mutation Details

(Table Legend)

Gene

PARK7

Name

g.19795G>A (relative to nt1 in AL034417.14)
g.14298G>A (relative to nt1 in NG_008271.1)

Alias

Ala104Thr

Description

Point mutation in coding region predicting an amino acid substitution in proximity to exon/intron boundary

Codon Change

From GCC to ACC

Details

Genomic

cDNA

Protein

Observed

g.19795G>A

Predicted

c.310G>A

p.A104T

Region

EX5

CDS

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 47.0y

Frequency

1 Family

Function

No Functional data available

Citations

Clark LN, Mov Disord 19: 796-800, 2004

Citation Details

Added: July 31, 2009

ID: 469