Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Pro117Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25553C>G (relative to Met1 in AF109907.1)
g.42107C>G (relative to nt1 in NG_007386.2)

Alias

Pro117Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCA to CGA

dbSNP ID

rs63749805

Details

Genomic

cDNA

Protein

Observed

g.25553C>G

Predicted

c.350C>G

p.P117R

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease / Myoclonus
Mean of Mean Onset Ages: 36.1y
Mean of Mean Ages at Death: 40.0y

Frequency

2 Families

Function

No Functional data available

Citations

Zekanowski C, Experimental Neurology 184: 991-996, 2003
Gómez-Tortosa E, Journal of Alzheimer's Disease 19: 873-884, 2010

Citation Details

Added: May 6, 2004
Last Modified: October 27, 2010

ID: 225



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