Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Tyr154Cys Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25664A>G (relative to Met1 in AF109907.1)
g.42218A>G (relative to nt1 in NG_007386.2)

Alias

Tyr154Cys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TAT to TGT

dbSNP ID

rs63751292

Details

Genomic

cDNA

Protein

Observed

g.25664A>G

Predicted

c.461A>G

p.Y154C

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 41.0y

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: 143



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