PARK2 Ser167Asn Mutation Details

(Table Legend)

Gene

PARK2

Name

g.0531638G>A (relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478)
g.051638G>A (relative to nt1 in NG_008289.1)

Alias

Ser167Asn

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AGC to AAC

dbSNP ID

rs1801474

Details

Genomic

cDNA

Protein

Observed

g.0531638G>A

Predicted

c.500G>A

p.S167N

Region

EX4

CDS

L1

Phenotype

(Not pathogenic)

Function

No Functional data available

Citations

Hattori N, Ann Neurol 44: 935-41, 1998
Wang M, Ann Neurol 45: 655-8, 1999
Satoh J, Neuroreport 10: 2735-9, 1999
Hu CJ, Eur Neurol 44: 90-3, 2000
Mellick GD, Parkinsonism Relat Disord 7: 89-91, 2001
Oliveri RL, Neurology 57: 359-62, 2001
Mata IF, Neurosci Lett 329: 149-52, 2002
Eerola J, Neurosci Lett 330: 296-8, 2002
Foroud T, Neurology 60: 796-801, 2003
Oliveira SA, Arch Neurol 60: 975-80, 2003
Lücking CB, Arch Neurol 60: 1253-6, 2003
Peng R, Eur Neurol 49: 85-9, 2003
Sinha R, Parkinsonism Relat Disord 11: 341-7, 2005
Li X, Parkinsonism Relat Disord 11: 485-91, 2005
Clark LN, Arch Neurol 63: 548-52, 2006
Kay DM, Ann Neurol 61: 47-54, 2007
Ghione I, Neurotoxicology 28: 698-701, 2007
Biswas A, Clin Genet 72: 484-6, 2007
Wu YR, Am J Med Genet B Neuropsychiatr Genet. Epub: , 2009
Koziorowski D, Parkinsonism Relat Disord Epub: , 2009
Martínez HR, Neurosci Lett 468: 264-6, 2010

Citation Details

Added: June 25, 2009

ID: 151