PSEN1 Leu381Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69055C>G (relative to Met1 in AF109907.1)
g.85667C>G (relative to nt1 in NG_007386.2)

Alias

Leu381Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTT to GTT

dbSNP ID

rs63750687

Details

Genomic

cDNA

Protein

Observed

g.69055C>G

c.1141C>G

Predicted

p.L381V

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease / Spastic paraparesis
Mean of Mean Onset Ages: 30.5y
Mean of Mean Ages at Death: 51.3y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

Function Details

Citations

Mehrabian S, European Journal of Neurology 11 Supp 2: 16, 2004
Ikeuchi T, Dementia and geriatric cognitive disorders 26: 43-49, 2008
Traykov DL, American Journal of Alzheimer's Disease & Other Dementias 24: 404-407, 2009

Citation Details

Added: January 10, 2006
Last Modified: October 22, 2010

ID: 252