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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