Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Met146Ile Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25641G>A (relative to Met1 in AF109907.1)
g.42195G>A (relative to nt1 in NG_007386.2)

Alias

Met146Ile

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to ATA

dbSNP ID

rs63750391

Details

Genomic

cDNA

Protein

Observed

g.25641G>A

Predicted

c.438G>A

p.M146I

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 46.7y
Mean of Mean Ages at Death: 55.4y

Frequency

2 Families

Function

No Functional data available

Citations

Cervenakova L, American Journal of Human Genetics 59 Supp: A252, 1996
Jorgensen P, Clinical Genetics 50: 281-286, 1996
Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003
Lindquist S, Clinical Genetics 76: 205-209, 2009

Citation Details

Added: December 23, 1998
Last Modified: August 26, 2009

ID: 87



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