Mutations Position Table
PSEN1 R377 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R377M |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown |
Unknown, but in silico algorithm predicted it is deleterious (PHRED-scaled CADD = 32). |
Janssen et al., 2003 |
| R377W |
AD : Likely Pathogenic | Substitution | Splicing Alteration | Deletion; Missense | Coding | Exon 10 | 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. |
Wallon et al., 2012; Borroni et al., 2011 |
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