Alzheimer Disease & Frontotemporal Dementia Mutation Database

Home

AD&FTDMDB

Links

About

PSEN1 Leu282Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50029C>G (relative to Met1 in AF109907.1)
g.66635C>G (relative to nt1 in NG_007386.2)

Alias

Leu282Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTT to GTT

dbSNP ID

rs63749937

Details

Genomic

cDNA

Protein

Observed

g.50029C>G

Predicted

c.844C>G

p.L282V

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease / CAA
Mean of Mean Onset Ages: 44.3y
Mean of Mean Ages at Death: 53.5y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

HEK293

2.2x ↓ (1)

= (1)

2.3x ↑ (1)

2.6x ↑ (3)

brain

1.6x ↑ (1)

1.3x ↑ (1)

 

 


Function Details

Citations

Dermaut B, Brain 124: 2383-2392, 2001

Citation Details

Added: March 7, 2002
Last Modified: February 3, 2009

ID: 129



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