Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Val89Leu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.22950G>T (relative to Met1 in AF109907.1)
g.39504G>T (relative to nt1 in NG_007386.2)

Alias

Val89Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTG to TTG

dbSNP ID

rs63750815

Details

Genomic

cDNA

Protein

Observed

g.22950G>T

Predicted

c.265G>T

p.V89L

Region

EX4

CDS

TM-I

Phenotype

Alzheimer Disease / Behavioural Disturbances
Mean of Mean Onset Ages: 48.6y
Mean of Mean Ages at Death: 59.0y

Frequency

1 Family

Function

No Functional data available

Citations

Queralt R, Journal of Neurology, Neurosurgery and Psychiatry 72: 266-269, 2002
Lleo A, Archives of Neurology 59: 1759-1763, 2002

Citation Details

Added: August 2, 2002
Last Modified: March 27, 2003

ID: 154



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