PINK1 Asn521Thr Mutation Details

(Table Legend)

Gene

PINK1

Name

g.172314A>C (relative to nt1 in AL391357.20)
g.22053A>C (relative to nt1 in NG_008164.1)

Alias

Asn521Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AAT to ACT

dbSNP ID

rs1043424

Details

Genomic

cDNA

Protein

Observed

g.172314A>C

c.1562A>C

Predicted

p.N521T

Region

EX8

CDS

C-term

Phenotype

(Not pathogenic)
Mean of Mean Onset Ages: 31.8y

Function

No Functional data available

Citations

Valente EM, Science 304: 1158-60, 2004
Rohé CF, Ann Neurol 56: 427-31, 2004
Groen JL, Neurosci Lett 372: 226-9, 2004
Schlitter AM, J Negat Results Biomed 4: , 2005
Clarimón J, Neurobiol Aging 27: 906-7, 2006
Tan EK, Mov Disord 21: 789-93, 2006
Myhre R, BMC Neurol 8: , 2008
Godeiro-Junior C, Mov Disord Epub: , 2009

Citation Details

Added: July 27, 2009

ID: 349