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PSEN1 Ala79Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.22921C>T (relative to Met1 in AF109907.1)
g.39475C>T (relative to nt1 in NG_007386.2)

Alias

Ala79Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCC to GTC

dbSNP ID

rs63749824

Details

Genomic

cDNA

Protein

Observed

g.22921C>T

c.236C>T

Predicted

p.A79V

Region

EX4

CDS

N-Term

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 61.2y

Frequency

8 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

2.8x ↓ (1)

= (1)

1.8x ↑ (1)

PSEN1&2-/- MEF

1.1x ↓ (1)

1.3x ↑ (1)

1.5x ↑ (1)

brain

= (1)

1.7x ↑ (1)

 


Function Details

Citations

Cruts M, Human Molecular Genetics 7: 43-51, 1998
Finckh U, American Journal of human Genetics 66: 110-117, 2000
Rogaeva EA, Neurology 57: 621-625, 2001
Miravalle L, Neurobiology of Aging 23 (1S): S322, 2002
Kauwe JS, Annals of Neurology 61: 446-453, 2007

Citation Details

Added: November 2, 1998
Last Modified: June 25, 2008

ID: 1



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