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APP Val717Leu Mutation Details

(Table Legend)

Gene

APP

Name

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

Alias

Val717Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTC to CTC

dbSNP ID

rs63750264

Details

Genomic

cDNA

Protein

Observed

g.275341G>C

Predicted

c.2149G>C

p.V717L

Region

EX17

CDS

TM-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 43.7y
Mean of Mean Ages at Death: 52.8y

Frequency

5 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

Mouse primary neurons

1.5x ↓ (1)

2.7x ↑ (1)

 


Function Details

Citations

Murrell JR, Archives of Neurology 57: 885-887, 2000
De Jonghe C, Human Molecular Genetics 10: 1665-1671, 2001
Finckh U, Neurogenetics 6: 85-89, 2005
Godbolt AK, Neurology 66: 611-612, 2006
Ghetti B, Alzheimer's & Dementia 4 Supp 2: T585, 2008

Citation Details

Added: July 19, 2000
Last Modified: September 23, 2008

ID: 90



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