Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Glu120Lys Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25561G>A (relative to Met1 in AF109907.1)
g.42115G>A (relative to nt1 in NG_007386.2)

Alias

Glu120Lys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to AAA

dbSNP ID

rs63750800

Details

Genomic

cDNA

Protein

Observed

g.25561G>A

Predicted

c.358G>A

p.E120K

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 44.0y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

42/Aβ

COS-1

3.4x ↑ (1)


Function Details

Citations

Hutton M, Neuroreport 7: 801-805, 1996
Lindquist S, Clinical Genetics 76: 205-209, 2009

Citation Details

Added: December 23, 1998
Last Modified: August 26, 2009

ID: 11



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