Mutations Position Table
PSEN1 P436 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P436Q |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Neuropathology consistent with AD in at least one mutation carrier, including frequent Aβ plaques, many of the cotton-wool type, and severe neurofibrillary tangle pathology (Braak and Braak stage VI). |
Increased the Aβ42/Aβ40 ratio in cells, while reducing production of Aβ40, Aβ42, and APP and Notch intracellular domains. Also reduced autoproteolytic processing of PSEN1. |
Taddei et al., 1998 |
| P436S |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Consistent with AD in one carrier, with both dense-core (Aβ43+) and cotton wool amyloid plaques. Lewy body pathology mostly in the amygdala. |
Increased Aβ43/Aβ40 and Aβ42/Aβ40 ratios. Unlike other PSEN1 mutations, unchanged Aβ42/Aβ38 ratio. Autoproteolytic processing similar to wildtype PSEN1. |
Palmer et al., 1999 |
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