LRRK2 Arg1067Gln Mutation Details

(Table Legend)

Gene

LRRK2

Name

g.78336G>A (relative to nt1 in NT_029419.11 Region: 2757119..2908338)
g.78336G>A (relative to nt1 in NG_011709.1)

Alias

Arg1067Gln

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGA to CAA

Details

Genomic

cDNA

Protein

Observed

g.78336G>A

Predicted

c.3200G>A

p.R1067Q

Region

EX24

CDS

LRR

Notes

Observed in 1 control individual

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 51.0y

Frequency

3 Families

Function

No Functional data available

Citations

Skipper L, Neurology 65: 1319-21, 2005
Zabetian CP, Mov Disord 24: 1034-41, 2009

Citation Details

Added: May 18, 2009

ID: 61