PSEN1 Ala434Cys Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.[71104G>T;71105C>G] (relative to Met1 in AF109907.1)
g.[87715G>T;87716C>G] (relative to nt1 in NG_007386.2)

Alias

Ala434Cys

Description

Double Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCT to TGT

dbSNP ID

rs63750528;rs63750341

Details

Genomic

cDNA

Protein

Observed

g.[71104G>T;71105C>G]

Predicted

c.[1300G>T;1301C>G]

p.A434C

Region

EX12

CDS

TM-IX

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 30.3y
Mean of Mean Ages at Death: 46.0y

Frequency

2 Families

Function

No Functional data available

Citations

Devi G, Archives of Neurology 57: 1454-1457, 2000
Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: April 5, 2001
Last Modified: June 5, 2007

ID: 104