PSEN1 Val261Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49966G>T (relative to Met1 in AF109907.1)
g.66572G>T (relative to nt1 in NG_007386.2)

Alias

Val261Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTT to TTT

dbSNP ID

rs63750964

Details

Genomic

cDNA

Protein

Observed

g.49966G>T

Predicted

c.781G>T

p.V261F

Region

EX8

CDS

TM-VI

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 36.3y
Mean of Mean Ages at Death: 53.5y

Frequency

5 Families

Function

No Functional data available

Citations

Farlow MR, Neurobiology of Aging 21 Supp1: S62, 2000
Farlow MR, Alzheimer's disease: advances in etiology, pathogenesis and therapeutics Chapter 6: 53-60, 2001
Rogaeva EA, Neurology 57: 621-625, 2001
Miravalle L, Neurobiology of Aging 23 (1S): S322, 2002

Citation Details

Added: July 20, 2000
Last Modified: December 3, 2008

ID: 92