LRRK2 Ser1228Thr Mutation Details

(Table Legend)

Gene

LRRK2

Name

g.84030G>C (relative to nt1 in NT_029419.11 Region: 2757119..2908338)
g.84030G>C (relative to nt1 in NG_011709.1)

Alias

Ser1228Thr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AGC to ACC

dbSNP ID

rs60185966

Details

Genomic

cDNA

Protein

Observed

g.84030G>C

Predicted

c.3683G>C

p.S1228T

Region

EX27

CDS

LRR

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 48.5y

Frequency

2 Families

Function

No Functional data available

Citations

Berg D, Brain 128: 3000-11, 2005
Macedo MG, Mov Disord 24: 196-203, 2009

Citation Details

Added: May 11, 2009

ID: 31