Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Tyr115His Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25546T>C (relative to Met1 in AF109907.1)
g.42100T>C (relative to nt1 in NG_007386.2)

Alias

Tyr115His

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TAT to CAT

dbSNP ID

rs63749962

Details

Genomic

cDNA

Protein

Observed

g.25546T>C

c.343T>C

Predicted

p.Y115H

Region

EX5

CDS

HL-I

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 38.5y
Mean of Mean Ages at Death: 41.5y

Frequency

3 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

COS-1

 

 

1.8x ↑ (1)

 

HEK293

1.2x ↑ (1)

1.6x ↑ (1)

 

3.1x ↑ (1)


Function Details

Citations

Campion D, Human Molecular Genetics 4: 2373-2377, 1995
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Finckh U, Neurogenetics 6: 85-89, 2005

Citation Details

Added: December 22, 1998
Last Modified: April 7, 2009

ID: 8



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