Alzheimer Disease & Frontotemporal Dementia Mutation Database

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APP Val717Phe Mutation Details

(Table Legend)

Gene

APP

Name

g.275341G>T (relative to Met1 in D87675.1)
g.284037G>T (relative to nt1 in NG_007376.1)

Alias

Val717Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTC to TTC

dbSNP ID

rs63750264

Details

Genomic

cDNA

Protein

Observed

g.275341G>T

Predicted

c.2149G>T

p.V717F

Region

EX17

CDS

TM-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 41.2y
Mean of Mean Ages at Death: 50.0y

Frequency

3 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

COS

4.0x ↓ (1)

= (1)

 

HEK293

1.6x ↓ (1)

1.8x ↑ (1)

2.9x ↑ (1)


Function Details

Citations

Murrell J, Science 254: 97-99, 1991
Finckh U, Neurogenetics 6: 85-89, 2005

Citation Details

Added: January 5, 1999
Last Modified: June 25, 2008

ID: 60



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