PSEN1 Leu424His Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.71075T>A (relative to Met1 in AF109907.1)
g.87686T>A (relative to nt1 in NG_007386.2)

Alias

Leu424His

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTC to CAC

dbSNP ID

rs63751032

Details

Genomic

cDNA

Protein

Observed

g.71075T>A

Predicted

c.1271T>A

p.L424H

Region

EX12

CDS

TM-VIII

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 39.0y

Frequency

2 Families

Function

No Functional data available

Citations

Golan M, Alzheimer's and Parkinson's Diseases: Insights, Progress and Perspectives. 7th International Conference AD/PD 2005 Book of Abstracts : 24, 2005
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Zekanowski C, Experimental Neurology 200: 82-88, 2006

Citation Details

Added: January 11, 2006
Last Modified: August 2, 2007

ID: 259