Mutations Position Table

PSEN1 P436 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
P436S
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63749925
Coding
Exon 12
Point, Missense
CCA to TCA
0 Palmer et al., 1999
P436Q
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in at least one mutation carrier, including frequent Aβ plaques, many of the cotton-wool type, and severe neurofibrillary tangle pathology (Braak and Braak stage VI).

Unknown.

rs121917808
Coding
Exon 12
Point, Missense
CCA to CAA
0 Taddei et al., 1998

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.