Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Cys410Tyr Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69143G>A (relative to Met1 in AF109907.1)
g.85755G>A (relative to nt1 in NG_007386.2)

Alias

Cys410Tyr

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TGT to TAT

dbSNP ID

rs661

Details

Genomic

cDNA

Protein

Observed

g.69143G>A

c.1229G>A

Predicted

p.C410Y

Region

EX11

CDS

TM-VIII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 49.9y

Frequency

3 Families

Function

Summary table showing mean of (n) reports

 

42/Aβ

COS-1

1.8x ↑ (1)


Function Details

Citations

Campion D, Human Molecular Genetics 4: 2373-2377, 1995
Sherrington R, Nature 375: 754-760, 1995
Cervenakova L, American Journal of Human Genetics 59 Supp: A252, 1996
Poorkaj P, Human Mutation 11: 216-221, 1998
Campion D, American Journal of Human Genetics 65: 664-670, 1999

Citation Details

Added: January 4, 1999
Last Modified: April 7, 2009

ID: 47



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