Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Gln228Leu Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.7039A>T (relative to Met1 in U50871.1)
g.23374A>T (relative to nt1 in NG_007381.1)

Alias

Gln228Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CAG to CTG

dbSNP ID

rs63750880

Details

Genomic

cDNA

Protein

Observed

g.7039A>T

Predicted

c.683A>T

p.Q228L

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 70.0y

Frequency

1 Family

Function

No Functional data available

Citations

Zekanowski C, Experimental Neurology 184: 991-996, 2003

Citation Details

Added: May 6, 2004

ID: 227



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