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

Pathogenecity

CADD (v1.2) score: phred = 19.01 ; raw = 1.99265
Guerreiro classification: Probable pathogenic

Phenotype

Alzheimer Disease / Frontotemporal Dementia
Mean of Mean Onset Ages: 55.3y
Mean of Mean Ages at Death: 64.0y

Frequency

4 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
Lohmann E, Neurobiology of Aging 33: 1850.e17-27, 2012

Citation Details

Added: September 26, 2008
Last Modified: December 14, 2015

ID: 450



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