Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu282Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50029C>T (relative to Met1 in AF109907.1)
g.66635C>T (relative to nt1 in NG_007386.2)

Alias

Leu282Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTT to TTT

Details

Genomic

cDNA

Protein

Observed

g.66635C>T

Predicted

c.844C>T

p.L282F

Region

EX8

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 51.0y

Frequency

1 Family

Function

No Functional data available

Citations

Hamaguchi T, Journal of Neurology 256: 1575-1577, 2009

Citation Details

Added: July 27, 2009

ID: 510



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