Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Met239Val Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.7071A>G (relative to Met1 in U50871.1)
g.23406A>G (relative to nt1 in NG_007381.1)

Alias

Met239Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to GTG

dbSNP ID

rs28936379

Details

Genomic

cDNA

Protein

Observed

g.7071A>G

c.715A>G

Predicted

p.M239V

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease / Behavioural Disturbances
Mean of Mean Onset Ages: 50.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

PSEN1&2-/- APPsw MEF

3.2x ↓ (1)

3.3x ↑ (1)

10.8x ↑ (1)


Function Details

Citations

Rogaev EI, Nature 376: 775-778, 1995
Marcon G, Journal of Neuropathology and Experimental Neurology 63: 199-209, 2004

Citation Details

Added: January 5, 1999
Last Modified: May 6, 2009

ID: 53



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