Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Met146Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25639A>G (relative to Met1 in AF109907.1)
g.42193A>G (relative to nt1 in NG_007386.2)

Alias

Met146Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to GTG

dbSNP ID

rs63750306

Details

Genomic

cDNA

Protein

Observed

g.25639A>G

c.436A>G

Predicted

p.M146V

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 37.7y

Frequency

4 Families

Function

Summary table showing mean of (n) reports

 

42/Aβ

COS-1

2.3x ↑ (1)


Function Details

Citations

Clark RF, Nature Genetics 11: 219-222, 1995
Cervenakova L, American Journal of Human Genetics 59 Supp: A252, 1996
Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: December 23, 1998
Last Modified: April 7, 2009

ID: 19



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