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
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.

rs63751235
Coding
Exon 8
Point, Missense
CTC to GTC
4 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.