PSEN1 Phe177Leu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38826T>C (relative to Met1 in AF109907.1)
g.55431T>C (relative to nt1 in NG_007386.2)

Alias

Phe177Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TTT to CTT

dbSNP ID

rs63749911

Details

Genomic

cDNA

Protein

Observed

g.38826T>C

c.529T>C

Predicted

g.38826T>C

p.F177L

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease

Frequency

2 Families

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001
Raux G, Journal of Medical Genetics 42: 793-795, 2005

Citation Details

Added: September 11, 2001
Last Modified: January 11, 2006

ID: 110