Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu286Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.50041C>G (relative to Met1 in AF109907.1)
g.66647C>G (relative to nt1 in NG_007386.2)

Alias

Leu286Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTC to GTC

dbSNP ID

rs63751235

Details

Genomic

cDNA

Protein

Observed

g.50041C>G

Predicted

c.856C>G

p.L286V

Region

EX8

CDS

HL-VI (MA)

Pathogenecity

CADD (v1.2) score: phred = 33 ; raw = 5.824761
Guerreiro classification: Definite pathogenic

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 47.5y

Frequency

3 Families

Function

Summary table showing mean of (n) reports

 

42/Aβ

42/Aβ40

NICD/NotchΔE

COS-1

1.5x ↑ (1)

 

 

HEK293

 

2.1x ↑ (1)

1.0x ↓ (1)


Function Details

Citations

Sherrington R, Nature 375: 754-760, 1995
Ikeuchi T, Dementia and geriatric cognitive disorders 26: 43-49, 2008
Wallon D, Journal of Alzheimer's Disease 30: 847-856, 2012

Citation Details

Added: December 24, 1998
Last Modified: December 14, 2015

ID: 43



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