LRRK2 Tyr2189Cys Mutation Details

(Table Legend)

Gene

LRRK2

Name

g.131713A>G (relative to nt1 in NT_029419.11 Region: 2757119..2908338)
g.131713A>G (relative to nt1 in NG_011709.1)

Alias

Tyr2189Cys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TAC to TGC

dbSNP ID

rs35658131

Details

Genomic

cDNA

Protein

Observed

g.131713A>G

Predicted

c.6566A>G

p.Y2189C

Region

EX44

CDS

WD40

Notes

Observed in 2 control individuals

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 56.7y

Frequency

3 Families

Function

No Functional data available

Citations

Nuytemans K, Eur J Hum Genet 16: 471-9, 2008
Abdalla-Carvalho CB, Eur J Neurol Epub: , 2010

Citation Details

Added: June 5, 2009

ID: 96