Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Tyr115Cys Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25547A>G (relative to Met1 in AF109907.1)
g.42101A>G (relative to nt1 in NG_007386.2)

Alias

Tyr115Cys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TAT to TGT

dbSNP ID

rs63750450

Details

Genomic

cDNA

Protein

Observed

g.25547A>G

Predicted

c.344A>G

p.Y115C

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 44.2y
Mean of Mean Ages at Death: 55.0y

Frequency

4 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

1.3x ↑ (1)

5.5x ↑ (1)

4.4x ↑ (1)


Function Details

Citations

Cruts M, Human Molecular Genetics 7: 43-51, 1998
Rogaeva EA, Neurology 57: 621-625, 2001
Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003
Doran M, Journal of Neurology 253 Suppl 2: ii91, 2006

Citation Details

Added: December 22, 1998
Last Modified: October 20, 2008

ID: 7



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