APP Val715Ala; German APP Mutation Details

(Table Legend)

Gene

APP

Name

g.275336T>C (relative to Met1 in D87675.1)
g.384032T>C (relative to nt1 in NG_007376.1)

Alias

Val715Ala; German APP

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTG to GCG

dbSNP ID

rs63750868

Details

Genomic

cDNA

Protein

Observed

g.275336T>C

Predicted

c.2144T>C

p.V715A

Region

EX17

CDS

TM-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 45.3y

Frequency

3 Families

Function

Summary table showing mean of (n) reports

Function Details

Citations

De Jonghe C, Human Molecular Genetics 10: 1665-1671, 2001
Cruts M, Neurobiology of Aging 23 (1S): S327, 2002
Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003
Cruts M, Journal of Neurology 250: 1374-1375, 2003
Zekanowski C, Experimental Neurology 184: 991-996, 2003

Citation Details

Added: July 31, 2002
Last Modified: August 31, 2006

ID: 140