Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Ala246Glu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44756C>A (relative to Met1 in AF109907.1)
g.61362C>A (relative to nt1 in NG_007386.2)

Alias

Ala246Glu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCG to GAG

dbSNP ID

rs63750526

Details

Genomic

cDNA

Protein

Observed

c.737C>A

Predicted

g.44756C>A

p.A246E

Region

EX7

CDS

TM-VI

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 52.5y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

42/Aβ

COS-1

2.4x ↑ (1)


Function Details

Citations

Sherrington R, Nature 375: 754-760, 1995
Kowalska A, Journal of Applied Genetics 44: 231-234, 2003
Kowalska A, Folia Neuropathologica 42: 9-14, 2004
Kowalska A, Acta Biochimica Polonica 51: 245-252, 2004
Gliebus G, American Journal of Alzheimer's Disease & Other Dementias 24: 456-460, 2009

Citation Details

Added: December 24, 1998
Last Modified: April 7, 2009

ID: 29



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