Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Met239Ile Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.7073G>A (relative to Met1 in U50871.1)
g.23408G>A (relative to nt1 in NG_007381.1)

Alias

Met239Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to ATA

dbSNP ID

rs63749884

Details

Genomic

cDNA

Protein

Observed

g.7073G>A

Predicted

c.717G>A

p.M239I

Region

EX7

CDS

TM-V

Pathogenecity

CADD (v1.2) score: phred = 25.2 ; raw = 4.474298
Guerreiro classification:

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 50.7y
Mean of Mean Ages at Death: 65.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

PSEN1&2-/- APPsw MEF

2.3x ↓ (1)

3.1x ↑ (1)

7.1x ↑ (1)


Function Details

Citations

Finckh U, American Journal of human Genetics 66: 110-117, 2000
Finckh U, Neurology 54: 2006-2008, 2000

Citation Details

Added: February 4, 2000
Last Modified: May 10, 2007

ID: 77



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