LRRK2 Gly2385Arg Mutation Details

(Table Legend)

Gene

LRRK2

Name

g.143516G>A (relative to nt1 in NT_029419.11 Region: 2757119..2908338)
g.143516G>A (relative to nt1 in NG_011709.1)

Alias

Gly2385Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGA to CGA

dbSNP ID

rs34778348

Details

Genomic

cDNA

Protein

Observed

g.143516G>A

Predicted

c.7153G>A

p.G2385R

Region

EX48

CDS

WD40

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 49.5y

Frequency

2 Families

Function

No Functional data available

Citations

Mata IF, Neurogenetics 6: 171-7, 2005
Di Fonzo A, Neurogenetics 7: 133-8, 2006
Fung HC, BMC Neurol 6: 47, 2006
Tan EK, Hum Genet 120: 857-63, 2007
Funayama M, Neuroreport 18: 273-5, 2007
Farrer MJ, Parkinsonism Relat Disord 13: 89-92, 2007
Tan EK, Mov Disord 22: 749-50, 2007
Tan EK, Mov Disord 22: 1816-8, 2007
Li C, Mov Disord 22: 2439-43, 2007
An XK, Eur J Neurol 15: 301-5, 2008
Chan DK, J Neural Transm 115: 1275-7, 2008
Lin CH, J Biomed Sci 15: 661-7, 2008
Choi JM, Neurogenetics 9: 263-9, 2008
Tan EK, Parkinsonism Relat Disord 14: 569-71, 2008
Lu CS, Parkinsonism Relat Disord 14: 393-6, 2008
Tan EK, Am J Med Genet B Neuropsychiatr Genet Epub: , 2009
Tan EK, Neurobiol Aging 30: 501-2, 2009
Nuytemans K, Hum Mutat Epub: , 2009
Zabetian CP, Mov Disord 24: 1034-41, 2009
Wu YR, Am J Med Genet B Neuropsychiatr Genet. Epub: , 2009
Chang TY, Parkinsonism Relat Disord 16: 28-30, 2010
Kim JM, Parkinsonism Relat Disord 16: 85-88, 2010
Tan EK, Hum Mutat 31: 561-8, 2010

Citation Details

Added: May 15, 2009

ID: 41