Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Ser175Cys Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.6210C>G (relative to Met1 in U50871.1)
g.22545C>G (relative to nt1 in NG_007381.1)

Alias

Ser175Cys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TCT to TGT

Details

Genomic

cDNA

Protein

Observed

g.6210C>G

Predicted

c.524C>G

p.S175C

Region

EX6

CDS

TM-III

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 60.5y
Mean of Mean Ages at Death: 70.0y

Frequency

1 Family

Function

No Functional data available

Citations

Piscopo P, Alzheimer's & Dementia 4 Supp 2: T595, 2008
Piscopo P, Personal Communication : , 2008
Piscopo P, Journal of Alzheimer's Disease 20: 43-47, 2010

Citation Details

Added: October 7, 2008
Last Modified: November 26, 2008

ID: 457



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