Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Gly183Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38845G>T (relative to Met1 in AF109907.1)
g.55450G>T (relative to nt1 in NG_007386.2)

Alias

Gly183Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGG to GTG

dbSNP ID

rs63751068

Details

Genomic

cDNA

Protein

Observed

g.38845G>T

Predicted

c.548G>T

p.G183V

Region

EX6

CDS

HL-III

Phenotype

Pick Disease
Mean of Mean Onset Ages: 51.0y
Mean of Mean Ages at Death: 64.7y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

42/Aβ

42/Aβ40

HEK293

1.4x ↑ (1)

1.5x ↑ (1)


Function Details

Citations

Dermaut B, Annals of Neurology 55: 617-626, 2004

Citation Details

Added: May 6, 2004
Last Modified: February 3, 2009

ID: 224



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