Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Glu123Lys Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25570G>A (relative to Met1 in AF109907.1)
g.42124G>A (relative to nt1 in NG_007386.2)

Alias

Glu123Lys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAG to AAG

dbSNP ID

rs63750378

Details

Genomic

cDNA

Protein

Observed

g.25570G>A

Predicted

c.367G>A

p.E123L

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 59.0y
Mean of Mean Ages at Death: 60.5y

Frequency

1 Family

Function

No Functional data available

Citations

Yasuda M, Archives of Neurology 56: 65-69, 1999

Citation Details

Added: March 18, 1999

ID: 66



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