Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Cys263Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49972T>C (relative to Met1 in AF109907.1)
g.66578T>C (relative to nt1 in NG_007386.2)

Alias

Cys263Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TGT to CGT

dbSNP ID

rs63750543

Details

Genomic

cDNA

Protein

Observed

g.49972T>C

Predicted

c.787T>C

p.C263R

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 50.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

CHO

1.5x ↓ (1)

1.2x ↓ (1)

 

1.4x ↓ (1)

COS-1

 

 

1.3x ↑ (1)

 

HEK293

1.4x ↓ (1)

1.1x ↓ (1)

 

1.6x ↑ (1)


Function Details

Citations

Wasco W, Nature Medicine 1: 848, 1995

Citation Details

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

ID: 33



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