Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 His163Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.38785A>G (relative to Met1 in AF109907.1)
g.55390A>G (relative to nt1 in NG_007386.2)

Alias

His163Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CAT to CGT

dbSNP ID

rs63750590

Details

Genomic

cDNA

Protein

Observed

g.38785A>G

c.488A>G

Predicted

p.H163R

Region

EX6

CDS

HL-II

Phenotype

Alzheimer Disease / Myoclonus
Mean of Mean Onset Ages: 45.6y

Frequency

15 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

COS-1

 

 

2.0x ↑ (1)

 

N2a

1.1x ↑ (1)

3.2x ↑ (1)

 

3.2x ↑ (1)


Function Details

Citations

Campion D, Human Molecular Genetics 4: 2373-2377, 1995
Sherrington R, Nature 375: 754-760, 1995
Tanahashi H, The Lancet 346: 440, 1995
Boteva K, The Lancet 347: 130-131, 1996
Kamino K, Neuroscience Letters 208: 195-198, 1996
Poduslo SE, Neuroreport 7: 2018-2020, 1996
Cervenakova L, American Journal of Human Genetics 59 Supp: A252, 1996
Reznik-Wolf H, Neurobiology of Aging 17 Supp: S14, 1996
Tanahashi H, Neuroscience Letters 218: 139-141, 1996
Poorkaj P, Human Mutation 11: 216-221, 1998
Kamimura K, Journal of the Neurological Sciences 160: 76-81, 1998
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Rogaeva EA, Neurology 57: 621-625, 2001
Lleo A, Archives of Neurology 59: 1759-1763, 2002
Zekanowski C, Experimental Neurology 184: 991-996, 2003
Gómez-Tortosa E, Alzheimer's & Dementia 4 Supp 2: T586, 2008
Gómez-Tortosa E, Journal of Alzheimer's Disease 19: 873-884, 2010

Citation Details

Added: December 23, 1998
Last Modified: October 27, 2010

ID: 20



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