Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Pro264Leu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.49976C>T (relative to Met1 in AF109907.1)
g.66582C>T (relative to nt1 in NG_007386.2)

Alias

Pro264Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCG to CTG

dbSNP ID

rs63750301

Details

Genomic

cDNA

Protein

Observed

g.49976C>T

c.791C>T

Predicted

p.P264L

Region

EX8

CDS

HL-VI a

Pathogenecity

CADD (v1.2) score: phred = 35 ; raw = 6.362145
Guerreiro classification: Definite pathogenic

Phenotype

Alzheimer Disease or Atypical Dementia / Spastic Paraparesis
Mean of Mean Onset Ages: 48.7y
Mean of Mean Ages at Death: 66.9y

Frequency

15 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ

42/Aβ40

COS-1

 

 

1.7x ↑ (1)

 

HEK293

= (1)

1.3x ↑ (1)

 

1.3x ↑ (1)


Function Details

Citations

Campion D, Human Molecular Genetics 4: 2373-2377, 1995
Wasco W, Nature Medicine 1: 848, 1995
Kwok JB, Neuroreport 8: 1537-1542, 1997
Poorkaj P, Human Mutation 11: 216-221, 1998
Campion D, American Journal of Human Genetics 65: 664-670, 1999
Jacquemont ML, Journal of Medical Genetics 39: E2, 2002
Miravalle L, Neurobiology of Aging 23 (1S): S322, 2002
Raux G, Journal of Medical Genetics 42: 793-795, 2005
Dumanchin C, Human Mutation 27: 1063, 2006
Martikainen P, Neuropathology and Applied Neurobiology 36: 41-54, 2010
Wallon D, Journal of Alzheimer's Disease 30: 847-856, 2012
Lohmann E, Neurobiology of Aging 33: 1850.e17-27, 2012

Citation Details

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

ID: 34



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