PINK1 Gly309Asp Mutation Details

(Table Legend)

Gene

PINK1

Name

g.166446G>A (relative to nt1 in AL391357.20)
g.16185G>A (relative to nt1 in NG_008164.1)

Alias

Gly309Asp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGC to GAC

Details

Genomic

cDNA

Protein

Observed

g.166446G>A

c.926G>A

Predicted

p.G309D

Region

EX4

CDS

Kinase

Phenotype

(Pathogenic nature unclear)

Frequency

1 Family

Function

No Functional data available

Citations

Valente EM, Science 304: 1158-60, 2004

Citation Details

Added: July 27, 2009

ID: 347