Mutations Position Table
PSEN1 P284 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P284L |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Prominent cotton-wool plaques in the cerebral cortex, basal ganglia, brainstem, and spinal cord. Some dense core plaques, primarily in the hippocampus and cerebral cortex. Vacuolar changes. Amyloid angiopathy. Neurofibrillary tangles. Mild neuritic changes and gliosis. |
Unknown, but several in silico algorithms predict it is damaging. |
Tabira et al., 2002 |
| P284S |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but in 4 family members, MRI revealed widespread white-matter lesions, with lobar microbleeds in two. In an unrelated carrier, PET showed Aβ deposition in cortex, cerebellum, and putamen and CSF biomarkers consistent with AD. |
Aβ40 and Aβ42 production was similar to wild-type PSEN1 in vitro. |
Marrosu et al., 2006 |
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