Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Gly394Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69095G>T (relative to Met1 in AF109907.1)
g.85707G>T (relative to nt1 in NG_007386.2)

Alias

Gly394Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGT to GTT

dbSNP ID

rs63750929

Details

Genomic

cDNA

Protein

Observed

c.1181G>T

Predicted

g.69095G>T

p.G394V

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 43.0y
Mean of Mean Ages at Death: 51.0y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

Fibroblast

1.1x ↑ (1)

1.1x ↑ (1)

1.0x ↑ (1)


Function Details

Citations

Rogaeva EA, Neurology 57: 621-625, 2001
Batelli S, Alzheimer Disease and Associated Disorders 22: 184-187, 2008

Citation Details

Added: September 11, 2001
Last Modified: September 23, 2008

ID: 122



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