Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu250Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44767T>G (relative to Met1 in AF109907.1)
g.61373T>G (relative to nt1 in NG_007386.2)

Alias

Leu250Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TTG to GTG

dbSNP ID

rs63750634

Details

Genomic

cDNA

Protein

Observed

g.44767T>G

Predicted

c.748T>G

p.L250V

Region

EX7

CDS

TM-VI

Phenotype

Alzheimer Disease / Myoclonus
Mean of Mean Onset Ages: 46.8y
Mean of Mean Ages at Death: 51.0y

Frequency

2 Families

Function

No Functional data available

Citations

Furuya H, Journal of the Neurological Sciences 209: 75-77, 2003
Mehrabian S, Epilepsia 46 Supp 6: 283, 2005

Citation Details

Added: April 14, 2003
Last Modified: January 11, 2006

ID: 167



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