Mutations Position Table
PSEN2 K82 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| K82fs |
Tauopathy consistent with Pick's Disease : Not Classified | Deletion | Deletion | Frame Shift | Coding | Exon 5 | Neuropathology consistent with Pick's disease. |
Frameshift starting at K82; reduced mutant protein in frontal cortex and hippocampus. |
Perrone et al., 2018 |
| K82R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown; neuroimaging showed diffuse cortical atrophy, especially in the posterior region and mild hippocampal atrophy. FDG-PET showed widespread hypometabolism. PIB-PET showed amyloid deposition in the frontal lobe, lateral temporal lobe, parietal lobe, posterior cingulate cortex, precuneus, and striatum. |
Aβ42/Aβ40 ratio, and Aβ42 and Aβ40 secretion similar to control in cellular assay. |
Shi et al., 2015 |
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