Mutations Position Table
PSEN1 R377 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| R377M |
Alzheimer's Disease | AD : Likely Pathogenic | Unknown | Unknown, but in silico algorithm predicted it is deleterious (PHRED-scaled CADD = 32). | rs63751051 |
Coding | Exon 11 | Point, Missense AGG to ATG |
0 | Janssen et al., 2003 |
| R377W |
Alzheimer's Disease | AD : Likely 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 |
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