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PSEN1 Met146Leu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25639A>C (relative to Met1 in AF109907.1)
g.42193A>C (relative to nt1 in NG_007386.2)

Alias

Met146Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to CTG

dbSNP ID

rs63750306

Details

Genomic

cDNA

Protein

Observed

g.25639A>C

c.436A>C

Predicted

p.M146L

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease / Pick Disease
Mean of Mean Onset Ages: 40.1y
Mean of Mean Ages at Death: 46.6y

Frequency

14 Families

Function

Summary table showing mean of (n) reports

 

40

40/Aβ

42

42/Aβ

42/Aβ40

CHO

 

1.2x ↓ (1)

 

1.7x ↑ (1)

 

HEK293

= (1)

1.2x ↓ (1)

2.0x ↑ (1)

3.0x ↑ (1)

2.0x ↑ (1)


Function Details

Citations

Sherrington R, Nature 375: 754-760, 1995
Sorbi S, The Lancet 346: 439-440, 1995
Clark RF, Nature Genetics 11: 219-222, 1995
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Terreni L, Neurobiology of Aging 21 Supp1: S176-S177, 2000
Rogaeva EA, Neurology 57: 621-625, 2001
Halliday GM, Annals of Neurology 57: 139-143, 2005
Finckh U, Neurogenetics 6: 85-89, 2005
Bruni AC, Neurology 74: 798-806, 2010
Swerdlow RH, Neurology 74: 790-791, 2010

Citation Details

Added: September 11, 2001
Last Modified: July 1, 2011

ID: 107



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