Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Glu120Gly Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25562A>G (relative to Met1 in AF109907.1)
g.42116A>G (relative to nt1 in NG_007386.2)

Alias

Glu120Gly

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to GGA

Details

Genomic

cDNA

Protein

Observed

g.25562A>G

Predicted

c.359A>G

p.E120G

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 39.0y
Mean of Mean Ages at Death: 42.0y

Frequency

1 Family

Function

No Functional data available

Citations

Lladó A, Neurologia 25: 13-16, 2010
Gómez-Tortosa E, Journal of Alzheimer's Disease 19: 873-884, 2010

Citation Details

Added: October 27, 2010

ID: 579



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