Mutations Position Table
PSEN1 A285 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A285V |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but MRI from 2 patients showed atrophy of the temporo-parietal cortex and hippocampus, and abnormalities in the deep white matter of the pariteo-occipital lobes. SPECT revealed hypoperfusion in parietal and occipital areas. |
Aβ40 and Aβ42 levels similar to controls in CSF of one patient. In cells, Aβ42 production elevated compared to Aβ40 and Aβ38 production. In vitro, both Aβ40 and Aβ42 production modestly reduced; Aβ42/Aβ40 similar to wild-type PSEN1. |
Ikeda et al., 1996 |
| A285S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but in one case, PiB-PET was positive, MRI revealed bilateral hippocampal atrophy, and FDG-PET showed bilateral hypometabolism in the temporal cortex. |
Unknown, but most in silico algorithms predicted probably damaging. |
Kim et al., 2020 |
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