PSEN1 Leu226Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44695C>T (relative to Met1 in AF109907.1)
g.61301C>T (relative to nt1 in NG_007386.2)

Alias

Leu226Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTC to TTC

dbSNP ID

rs63750487

Details

Genomic

cDNA

Protein

Observed

g.44695C>T

Predicted

c.676C>T

p.L226F

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease / Frontotemporal Dementia
Mean of Mean Onset Ages: 33.8y
Mean of Mean Ages at Death: 41.5y

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
Zekanowski C, Experimental Neurology 200: 82-88, 2006
Gómez-Tortosa E, Journal of Alzheimer's Disease 19: 873-884, 2010

Citation Details

Added: February 6, 2007
Last Modified: October 27, 2010

ID: 332