Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Pro117Ser Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25552C>T (relative to Met1 in AF109907.1)
g.42106C>T (relative to nt1 in NG_007386.2)

Alias

Pro117Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCA to TCA

dbSNP ID

rs63750550

Details

Genomic

cDNA

Protein

Observed

g.25552C>T

Predicted

c.349C>T

p.P117S

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 31.0y
Mean of Mean Ages at Death: 43.5y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

42/Aβ40

N2a

1.7x ↑ (1)

fibroblasts

3.0x ↑ (1)


Function Details

Citations

Dowjat K, Neurobiology of Aging 23 (1S): S219, 2002
Dowjat WK, Journal of Alzheimer's Disease 6: 31-43, 2004

Citation Details

Added: August 2, 2002
Last Modified: October 20, 2008

ID: 151



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