PARK2 Met192Leu Mutation Details

(Table Legend)

Gene

PARK2

Name

g.0678668A>C (relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478)
g.0678668A>C (relative to nt1 in NG_008289.1)

Alias

Met192Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to CTG

dbSNP ID

rs9456735

Details

Genomic

cDNA

Protein

Observed

g.0678668A>C

Predicted

c.574A>C

p.M192L

Region

EX5

CDS

L1

Notes

Observed in 6 control individuals

Phenotype

Mean of Mean Onset Ages: 41.8y

Frequency

14 Families

Function

No Functional data available

Citations

Hedrich K, Neurology 58: 1239-46, 2002
Clark LN, Arch Neurol 63: 548-52, 2006
Wang Y, Arch Neurol 65: 467-74, 2008
Okubadejo N, PLoS One 3: e3421, 2008
Sironi F, Parkinsonism Relat Disord 14: 326-33, 2008
Bardien S, Parkinsonism Relat Disord 15: 116-21, 2009
Nuytemans K, Hum Mutat Epub: , 2009

Citation Details

Added: July 16, 2009

ID: 216