Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Cys263Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49973G>T (relative to Met1 in AF109907.1)
g.66579G>T (relative to nt1 in NG_007386.2)

Alias

Cys263Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TGT to TTT

dbSNP ID

rs63751102

Details

Genomic

cDNA

Protein

Observed

g.49973G>T

Predicted

c.788G>T

p.C263F

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 64.0y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

2.3x ↓ (1)

= (1)

2.9x ↑ (1)

brain

1.7x ↑ (1)

1.3x ↑ (1)

 


Function Details

Citations

Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003
Brouwers N, Alzheimer's & Dementia 2 Supp 1: S191, 2006

Citation Details

Added: August 1, 2002
Last Modified: September 18, 2008

ID: 148



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