Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Gln223Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44687A>G (relative to Met1 in AF109907.1)
g.61293A>G (relative to nt1 in NG_007386.2)

Alias

Gln223Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CAG to CGG

Details

Genomic

cDNA

Protein

Observed

g.44687A>G

Predicted

c.668A>G

p.Q223R

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 34.3y
Mean of Mean Ages at Death: 39.3y

Frequency

1 Family

Function

No Functional data available

Citations

Uttner I, European Journal of Neurology 17: 631-633, 2010

Citation Details

Added: December 23, 2009

ID: 541



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