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PSEN1 Ala285Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50039C>T (relative to Met1 in AF109907.1)
g.66645C>T (relative to nt1 in NG_007386.2)

Alias

Ala285Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCT to GTT

dbSNP ID

rs63751139

Details

Genomic

cDNA

Protein

Observed

c.854C>T

Predicted

g.50039C>T

p.A285V

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 50.5y
Mean of Mean Ages at Death: 65.0y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

40/Aβ

42/Aβ

COS-1

 

1.7x ↑ (1)

HEK293

1.3x ↓ (1)

4.0x ↑ (1)


Function Details

Citations

Rogaev EI, Nature 376: 775-778, 1995
Ikeda M, Annals of Neurology 40: 912-917, 1996
Aoki M, Neurology 48: 1118-1120, 1997

Citation Details

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

ID: 42



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