Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Ile229Phe Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44704A>T (relative to Met1 in AF109907.1)
g.61310A>T (relative to nt1 in NG_007386.2)

Alias

Ile229Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATT to TTT

dbSNP ID

rs63749970

Details

Genomic

cDNA

Protein

Observed

g.44704A>T

Predicted

c.685A>T

p.I229F

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 33.0y

Frequency

1 Family

Function

No Functional data available

Citations

Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003

Citation Details

Added: August 1, 2002
Last Modified: March 25, 2003

ID: 145



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