Mutations Position Table
PSEN1 L286 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| L286P |
Alzheimer's Disease, Cerebral Amyloid Angiopathy | Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Pathogenic | 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. |
Coding Exon 8 |
Point, Missense CTC to CCC |
0 | Sánchez-Valle et al., 2007 | |
| L286V |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Neuropathology consistent with AD. |
Increased Aβ42/Aβ total ratio in cells. In vitro, decreased Aβ40 and Aβ42 production. Disrupts intracellular calcium dynamics. |
rs63751235 |
Coding Exon 8 |
Point, Missense CTC to GTC |
11 | Sherrington et al., 1995 |
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