PSEN1 Leu392Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69088C>G (relative to Met1 in AF109907.1)
g.85700C>G (relative to nt1 in NG_007386.2)

Alias

Leu392Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTG to GTG

dbSNP ID

rs63751416

Details

Genomic

cDNA

Protein

Observed

g.69088C>G

c.1174C>G

Predicted

p.L392V

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 42.5y
Mean of Mean Ages at Death: 52.6y

Frequency

5 Families

Function

Summary table showing mean of (n) reports

Function Details

Citations

Campion D, Neurology 45: 80-85, 1995
Campion D, Human Molecular Genetics 4: 2373-2377, 1995
Rogaev EI, Nature 376: 775-778, 1995
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Ikeuchi T, Dementia and geriatric cognitive disorders 26: 43-49, 2008

Citation Details

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

ID: 46