LRRK2 Gly2019Ser Mutation Details

(Table Legend)

Gene

LRRK2

Name

g.120390G>A (relative to nt1 in NT_029419.11 Region: 2757119..2908338)
g.120390G>A (relative to nt1 in NG_011709.1)

Alias

Gly2019Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGC to AGC

dbSNP ID

rs34637584

Details

Genomic

cDNA

Protein

Observed

g.120390G>A

Predicted

c.6055G>A

p.G2019S

Region

EX41

CDS

Kinase

Notes

Observed in 18 control individuals

Phenotype

Mean of Mean Onset Ages: 55.1y - Mean of Mean Ages at Death: 75.1y

Frequency

772 Families

Function

No Functional data available

Citations

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Citation Details

Added: May 11, 2009

ID: 28