PSEN2 Val139Met Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.3687G>A (relative to Met1 in U50871.1)
g.20025G>A (relative to nt1 in NG_007381.1)

Alias

Val139Met

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTG to ATG

Details

Genomic

cDNA

Protein

Observed

g.3687G>A

Predicted

c.415G>A

p.V139M

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease (Pathogenic nature unclear)
Mean of Mean Onset Ages: 76.0y
Mean of Mean Ages at Death: 78.5y

Frequency

1 Family

Function

No Functional data available

Citations

Bernardi L, Journal of Neurology 255: 604-606, 2008
Gallo M, Alzheimer's & Dementia 4 Supp 2: T585, 2008

Citation Details

Added: March 29, 2008

ID: 418