Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Asp439Ala Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.13642A>C (relative to Met1 in U50871.1)
g.29977A>C (relative to nt1 in NG_007381.1)

Alias

Asp439Ala

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAC to GCC

dbSNP ID

rs63750110

Details

Genomic

cDNA

Protein

Observed

g.13642A>C

Predicted

c.1316A>C

p.D439A

Region

EX12

CDS

C-Term

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 56.0y
Mean of Mean Ages at Death: 80.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

PSEN1&2-/- APPsw MEF

1.3x ↓ (1)

1.2x ↓ (1)

1.1x ↑ (1)


Function Details

Citations

Lleo A, Neurology 57: 1926-1928, 2001
Lleo A, Archives of Neurology 59: 1759-1763, 2002

Citation Details

Added: March 7, 2002
Last Modified: May 10, 2007

ID: 132



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