Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Tyr154Asn Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25663T>A (relative to Met1 in AF109907.1)
g.42217T>A (relative to nt1 in NG_007386.2)

Alias

Tyr154Asn

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TAT to AAT

dbSNP ID

rs63750588

Details

Genomic

cDNA

Protein

Observed

g.25663T>A

Predicted

c.460T>A

p.Y154N

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 41.0y
Mean of Mean Ages at Death: 69.0y

Frequency

1 Family

Function

No Functional data available

Citations

Hattori S, Neuroscience Letters 368: 319-322, 2004

Citation Details

Added: September 22, 2004

ID: 234



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