Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Glu184Asp Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44571A>C (relative to Met1 in AF109907.1)
g.61177A>C (relative to nt1 in NG_007386.2)

Alias

Glu184Asp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GAA to GAC

dbSNP ID

rs63750311

Details

Genomic

cDNA

Protein

Observed

g.44571A>C

Predicted

c.552A>C

p.E184D

Region

EX7

CDS

HL-III

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 42.0y
Mean of Mean Ages at Death: 51.0y

Frequency

2 Families

Function

No Functional data available

Citations

Yasuda M, Neuroscience Letters 232: 29-32, 1997
Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003

Citation Details

Added: December 24, 1998
Last Modified: March 25, 2003

ID: 22



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