Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ala431Glu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.71096C>A (relative to Met1 in AF109907.1)
g.87707C>A (relative to nt1 in NG_007386.2)

Alias

Ala431Glu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCA to GAA

dbSNP ID

rs63750083

Details

Genomic

cDNA

Protein

Observed

c.1292C>A

Predicted

g.71096C>A

p.A431E

Region

EX12

CDS

HL-VIII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 40.5y

Frequency

34 Families

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001
Miravalle L, Neurobiology of Aging 23 (1S): S322, 2002
Lee P, Neurology 66: 1955-1956, 2006
Yescas P, Neurogenetics 7: 195-200, 2006
Murrell J, Neurogenetics 7: 277-279, 2006

Citation Details

Added: September 11, 2001
Last Modified: June 5, 2007

ID: 124



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