Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ile213Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44656A>T (relative to Met1 in AF109907.1)
g.61262A>T (relative to nt1 in NG_007386.2)

Alias

Ile213Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATT to TTT

dbSNP ID

rs63750861

Details

Genomic

cDNA

Protein

Observed

g.44656A>T

Predicted

c.637A>T

p.I213F

Region

EX7

CDS

TM-IV

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 33.0y

Frequency

1 Family

Function

No Functional data available

Citations

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

Citation Details

Added: May 6, 2004

ID: 226



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