PSEN1 Gly378Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69047G>T (relative to Met1 in AF109907.1)
g.85659G>T (relative to nt1 in NG_007386.2)

Alias

Gly378Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGA to GTA

dbSNP ID

rs63750323

Details

Genomic

cDNA

Protein

Observed

g.69047G>T

Predicted

c.1133G>T

p.G378V

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 45.0y

Frequency

1 Family

Function

No Functional data available

Citations

Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003

Citation Details

Added: August 1, 2002
Last Modified: March 25, 2003

ID: 150