LRRK2 Gly2385 Mutation Details

(Table Legend)

Gene

LRRK2

Name

g.143518A>G (relative to nt1 in NT_029419.11 Region: 2757119..2908338)
g.143518A>G (relative to nt1 in NG_011709.1)

Alias

Gly2385

Description

Silent point mutation in coding region

Codon Change

From GGA to GGG

dbSNP ID

rs33962975

Details

Genomic

cDNA

Protein

Observed

g.143518A>G

Predicted

c.7155A>G

p.G2385

Region

EX48

CDS

WD40

Phenotype

(Not pathogenic)

Function

No Functional data available

Citations

Mata IF, Neurogenetics 6: 171-7, 2005
Di Fonzo A, Eur J Hum Genet 14: 322-31, 2006
Lesage S, J Med Genet Epub: , 2009
Shojaee S, Mov Disord 24: 1023-7, 2009
Tan EK, Hum Mutat 31: 561-8, 2010

Citation Details

Added: May 15, 2009

ID: 58