Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Asn141Ile; Volga-German Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.3694A>T (relative to Met1 in U50871.1)
g.20032A>T (relative to nt1 in NG_007381.1)

Alias

Asn141Ile; Volga-German

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AAC to ATC

dbSNP ID

rs63750215

Details

Genomic

cDNA

Protein

Observed

g.3694A>T

c.422A>T

Predicted

p.N141I

Region

EX5

CDS

TM-II

Pathogenecity

CADD (v1.2) score: phred = 25.8 ; raw = 4.688375
Guerreiro classification: Definite pathogenic

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 56.2y
Mean of Mean Ages at Death: 60.5y

Frequency

10 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

HEK293

1.6x ↓ (1)

5.0x ↑ (1)

6.9x ↑ (2)

PSEN1&2-/- APPsw MEF

5.6x ↓ (1)

3.7x ↑ (1)

20.8x ↑ (1)


Function Details

Citations

Levy-Lahad E, Science 269: 973-977, 1995
Rogaev EI, Nature 376: 775-778, 1995
Finckh U, Neurogenetics 6: 85-89, 2005
Blauwendraat C, Neurobiology of Aging 37: 208.e11-7, 2016

Citation Details

Added: January 5, 1999
Last Modified: June 23, 2016

ID: 51



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