Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

APP Val715Met; French APP Mutation Details

(Table Legend)

Gene

APP

Name

g.275335G>A (relative to Met1 in D87675.1)
g.284031G>A (relative to nt1 in NG_007376.1)

Alias

Val715Met; French APP

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTG to ATG

dbSNP ID

rs63750734

Details

Genomic

cDNA

Protein

Observed

g.275335G>A

Predicted

c.2143G>A

p.V715M

Region

EX17

CDS

TM-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 47.0y
Mean of Mean Ages at Death: 51.0y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

2.0x ↓ (1)

= (1)

1.8x ↑ (1)

Mouse primary neurons

3.3x ↓ (1)

= (1)

 


Function Details

Citations

Ancolio K, Proceedings of the National Academy of Sciences USA 96: 4119-4124, 1999
Campion D, American Journal of Human Genetics 65: 664-670, 1999
De Jonghe C, Human Molecular Genetics 10: 1665-1671, 2001
Park HK, Journal of Korean Medical Science 23: 213-217, 2008

Citation Details

Added: June 24, 1999
Last Modified: June 20, 2008

ID: 71



Note! When using AD&FTDMDB, please consult the How To Cite page for information on how to cite AD&FTDMDB in your publication.



Top |  Back |  AD&FTDMDB Home