PSEN1 Leu166Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38794T>G (relative to Met1 in AF109907.1)
g.55399T>G (relative to nt1 in NG_007386.2)

Alias

Leu166Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTT to CGT

dbSNP ID

rs63750265

Details

Genomic

cDNA

Protein

Observed

g.38794T>G

Predicted

c.497T>G

p.L166R

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 38.0y
Mean of Mean Ages at Death: 42.8y

Frequency

1 Family

Function

No Functional data available

Citations

Ezquerra M, Archives of Neurology 57: 485-488, 2000
Lleo A, Archives of Neurology 59: 1759-1763, 2002

Citation Details

Added: April 18, 2000
Last Modified: March 27, 2003

ID: 88