SNCA Ala30Pro Mutation Details

(Table Legend)

Gene

SNCA

Name

g.029876G>C (relative to nt1 in AF163864.1)
g.007717G>C (relative to nt1 in NG_011851.1)

Alias

Ala30Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCA to CCA

Details

Genomic

cDNA

Protein

Observed

g.29876G>C

Predicted

c.88G>C

p.A30P

Region

EX2

CDS

Phenotype

Mean of Mean Onset Ages: 54.0y - Mean of Mean Ages at Death: 69.0y

Frequency

1 Family

Function

No Functional data available

Citations

Krüger R, Nat Genet 18: 106-8, 1998

Citation Details

Added: April 22, 2009

ID: 2