Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Arg62His Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.1839G>A (relative to Met1 in U50871.1)
g.18177G>A (relative to nt1 in NG_007381.1)

Alias

Arg62His

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGC to CAC

dbSNP ID

rs58973334

Details

Genomic

cDNA

Protein

Observed

g.1839G>A

Predicted

c.185G>A

p.R62H

Region

EX4

CDS

N-Term

Pathogenecity

CADD (v1.2) score: phred = 13.84 ; raw = 1.116704
Guerreiro classification: Not pathogenic

Notes

Observed in 20 African control individuals of the Human Genome Diversity Panel. Does not co-segregate with FTD in one family

Phenotype

Alzheimer Disease/Frontotemporal Dementia (Pathogenic nature unclear)
Mean of Mean Onset Ages: 55.8y
Mean of Mean Ages at Death: 89.0y

Frequency

7 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

PSEN1&2-/- APPsw MEF

1.0x ↑ (1)

1.1x ↓ (1)

1.1x ↓ (1)


Function Details

Citations

Cruts M, Human Molecular Genetics 7: 43-51, 1998
Sleegers K, Brain 127: 1641-1649, 2004
Ertekin-Taner N, Neurology 70: 596-606, 2008
Gallo M, Neurological Sciences 31: 65-70, 2009
Guerreiro RJ, Neurobiology of Aging 31: 725-731, 2010
Dobricic V, Neurobiology of Aging 33: 1481.e7-12, 2012
Lohmann E, Neurobiology of Aging 33: 1850.e17-27, 2012
Sassi C, Neurobiology of Aging 35: 2881.e1-6, 2014

Citation Details

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

ID: 50



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