Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Gly378Glu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.69047G>A (relative to Met1 in AF109907.1)
g.85659G>A (relative to nt1 in NG_007386.2)

Alias

Gly378Glu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGA to GAA

dbSNP ID

rs63750323

Details

Genomic

cDNA

Protein

Observed

g.69047G>A

Predicted

c.1133G>A

p.G378E

Region

EX11

CDS

TM-VII

Phenotype

Alzheimer Disease / CAA
Mean of Mean Onset Ages: 37.5y
Mean of Mean Ages at Death: 40.8y

Frequency

4 Families

Function

Summary table showing mean of (n) reports

 

42/Aβ40

NICD/NotchΔE

HEK293

3.4x ↑ (1)

1.0x ↑ (1)


Function Details

Citations

Besançon R, Human Mutation 11: 481, 1998
Finckh U, Neurogenetics 6: 85-89, 2005
Ikeuchi T, Dementia and geriatric cognitive disorders 26: 43-49, 2008

Citation Details

Added: December 24, 1998
Last Modified: September 23, 2008

ID: 44



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