Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Val96Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.22971G>T (relative to Met1 in AF109907.1)
g.39525G>T (relative to nt1 in NG_007386.2)

Alias

Val96Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTC to TTC

dbSNP ID

rs63750601

Details

Genomic

cDNA

Protein

Observed

g.22971G>T

c.286G>T

Predicted

p.V96F

Region

EX4

CDS

TM-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 52.5y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

42/Aβ

COS-1

1.6x ↑ (1)


Function Details

Citations

Kamino K, Neuroscience Letters 208: 195-198, 1996

Citation Details

Added: December 7, 1998
Last Modified: April 7, 2009

ID: 5



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