Mutations Position Table

PSEN2 R62 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R62C
Alzheimer's Disease, None Alzheimer's Disease : Unclear Pathogenicity

Unknown.

Unknown.

[MET1] 1838C>T
[NT1] 18176C>T

Coding
Exon 4
Point
CGC to TGC
0 Sleegers 2004;
Ertekin-Taner 2008;
Brouwers 2008
R62H
Alzheimer's Disease, Frontotemporal Dementia Alzheimer's Disease : Not Pathogenic, Frontotemporal Dementia : Not Pathogenic

Unknown.

No change in proteolytic products PSEN2-CTF and PSEN2-NTF; no change in Aβ42 levels or the Aβ42/Aβ40 ratio.

[MET1] g.1839G>A
[NT1] g.18177G>A
rs58973334
Coding
Exon 4
Point, Missense
CGC to CAC
0 Cruts 1998;
Gallo 2010

There are two reported variants at codon 62 in the N-terminal region of PSEN2 that result in the replacement of the arginine at this position with either cysteine or histidine. It is not clear that either variant affects pathogenicity as neither has been shown to segregate with disease (either AD or FTD) in the families in which the variants were identified. Both variants have been found in cognitively healthy individuals. Notably, the R62H variant was found in 20 out of 130 African individuals whose DNA was included in the Centre d’Etude du Polymorphisme Humain-Human Genome Diversity Panel (CEPH-HGDP), suggesting this may be a common polymorphism in African populations.