PSEN1 Thr274Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50006C>G (relative to Met1 in AF109907.1)
g.66612C>G (relative to nt1 in NG_007386.2)

Alias

Thr274Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ACA to AGA

dbSNP ID

rs63750284

Details

Genomic

cDNA

Protein

Observed

c.821C>G

Predicted

g.50006C>G

p.T274R

Region

EX8

CDS

HL-VI a

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: September 11, 2001

ID: 118