Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Phe105Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.22998T>G (relative to Met1 in AF109907.1)
g.39552T>G (relative to nt1 in NG_007386.2)

Alias

Phe105Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TTT to GTT

Details

Genomic

cDNA

Protein

Observed

g.22998T>G

Predicted

c.313T>G

p.F105V

Region

EX4

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 52.0y

Frequency

1 Family

Function

No Functional data available

Citations

Gómez-Tortosa E, Journal of Alzheimer's Disease 19: 873-884, 2010

Citation Details

Added: October 26, 2010

ID: 578



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