PSEN1 Thr116Asn Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25550C>A (relative to Met1 in AF109907.1)
g.42104C>A (relative to nt1 in NG_007386.2)

Alias

Thr116Asn

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ACC to AAC

dbSNP ID

rs63750730

Details

Genomic

cDNA

Protein

Observed

g.25550C>A

c.347C>A

Predicted

p.T116N

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 37.5y
Mean of Mean Ages at Death: 43.7y

Frequency

4 Families

Function

No Functional data available

Citations

Romero I, Neuroreport 10: 2255-2260, 1999
Rogaeva EA, Neurology 57: 621-625, 2001
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Guerreiro RJ, Neurobiology of Aging 31: 725-731, 2010

Citation Details

Added: July 24, 2000
Last Modified: September 26, 2008

ID: 93