PARK2 Arg42Pro Mutation Details

(Table Legend)

Gene

PARK2

Name

g.0289447G>C (relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478)
g.0289447G>C (relative to nt1 in NG_008289.1)

Alias

Arg42Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGT to CCT

Details

Genomic

cDNA

Protein

Observed

g.0289447G>C

Predicted

c.125G>C

p.R42P

Region

EX2

CDS

UBL

Phenotype

Mean of Mean Onset Ages: 33.6y - Mean of Mean Ages at Death: 27.0y

Frequency

11 Families

Function

No Functional data available

Citations

Terreni L, Neurology 56: 463-6, 2001
Hedrich K, Neurology 58: 1239-46, 2002
Bertoli-Avella AM, Mov Disord 20: 424-31, 2005
Clark LN, Arch Neurol 63: 548-52, 2006
Pellecchia MT, Mov Disord 22: 559-63, 2007
Wang Y, Arch Neurol 65: 467-74, 2008
Sironi F, Parkinsonism Relat Disord 14: 326-33, 2008
Macedo MG, Mov Disord 24: 196-203, 2009

Citation Details

Added: July 14, 2009

ID: 185