Mutations Position Table
PSEN1 Y389 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| Y389S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown, but one case had Aβ accumulation (PiB-PET+), with mild, diffuse cortical atrophy (MRI), and bilateral hypometabolism in the parieto-temporal cortex (FDG-PET). |
Unknown, but predicted probably damaging by in silico algorithms Polyphen2 and SIFT. CADD score = 26.8. |
Kim et al., 2020 |
| Y389H |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown, but in two cases, amyloid-PET was positive. MRI revealed mild, diffuse cortical atrophy in one case, and severe frontotemporal atrophy in another. FDG-PET showed bilateral hypometabolism in parietal and temporal cortices in one case. |
Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerable/damaging (SIFT). CADD score = 26.9. |
Park et al., 2020; Kim et al., 2020 |
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