Mutations Position Table

PSEN1 R377 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R377M
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown

Unknown

rs63751051
Coding
Exon 11
Point, Missense
AGG to ATG
0 Janssen et al., 2003
R377W
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; in one case, imaging showed amyloid deposition in the precuneus and frontal and parietal areas, with mild parietal atrophy and hypometabolism in precuneus, posterior cingulum, inferior parietal lobes, temporal, and frontal lobes. Frontotemporal atrophy and hypometabolism seen in another case.

 

In vitro, decreased Aβ42 production and abrogated Aβ40 production.


Coding
Exon 10
Point, Missense
AGG to TGG
0 Wallon et al., 2012;
Borroni et al., 2011

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.