Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Gly217Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44668G>C (relative to Met1 in AF109907.1)
g.61274G>C (relative to nt1 in NG_007386.2)

Alias

Gly217Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGT to CGT

Details

Genomic

cDNA

Protein

Observed

g.44668G>C

Predicted

c.649G>C

p.G217R

Region

EX7

CDS

HL-IV

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 45.3y
Mean of Mean Ages at Death: 55.5y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

42/Aβ40

HEK293

4.3x ↑ (1)


Function Details

Citations

Norton JB, Neurology 73: 480-482, 2009

Citation Details

Added: August 19, 2010

ID: 569



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