Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Val412Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69148G>A (relative to Met1 in AF109907.1)
g.85760G>A (relative to nt1 in NG_007386.2)

Alias

Val412Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTA to ATA

Details

Genomic

cDNA

Protein

Observed

g.69148G>A

Predicted

c.1234G>A

p.V412I

Region

EX11

CDS

TM-VIII

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 37.5y
Mean of Mean Ages at Death: 44.0y

Frequency

1 Family

Function

No Functional data available

Citations

Bernardi L, Neurobiology of Aging 30: 1825-1833, 2009

Citation Details

Added: March 21, 2008

ID: 416



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