Mutations Position Table

PSEN1 L286 Mutations

Tools

Back to the Top
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

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.