Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Met174Val Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.6206A>G (relative to Met1 in U50871.1)
g.22541A>G (relative to nt1 in NG_007381.1)

Alias

Met174Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to GTG

Details

Genomic

cDNA

Protein

Observed

g.6206A>G

Predicted

c.520A>G

p.M174V

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 54.0y

Frequency

2 Families

Function

No Functional data available

Citations

Clarimón J, Alzheimer's & Dementia 4 Supp 2: T583, 2008
Andreoli V, Human Genetics 124: 304, 2008
Guerreiro RJ, Neurobiology of Aging 31: 725-731, 2010

Citation Details

Added: September 26, 2008
Last Modified: December 3, 2008

ID: 450



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