Mutations Position Table
PSEN1 L286 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L286P |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Cotton wool plaques and severe amyloid angiopathy (2 cases); brain hematoma at early age (3 cases). |
Decreased Aβ37, Aβ38, Aβ39, and Aβ42 in patient CSF; increased Aβ15 and Aβ20. Increased Aβ42/43 amyloid production in cultured cells; reduced production rates of Aβ38 and Aβ40 in isolated brain membranes, and decreased Aβ38/Aβ42 ratio. |
Sánchez-Valle et al., 2007 |
| L286V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with AD. |
Increased Aβ42/Aβ total ratio, unchanged Aβ42/Aβ40 ratio, and increased Aβ43, Aβ42, and Aβ40 levels, with decreased non-amylodiogenic processing of APP in cells. In vitro, decreased ε-cleavage. Disrupts intracellular calcium dynamics and cellular redox status. |
Sherrington et al., 1995 |
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