Mutations Position Table
PSEN1 P436 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P436Q |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | 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, but multiple in silico algorithms predicted it is damaging. |
Taddei et al., 1998 |
| P436S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown |
Increased Aβ42/Aβ40 ratio in cells and in vitro. In cells, decreased production of Aβ40, Aβ42, AICD, Notch. In vitro, decreased Aβ40, with no effect on Aβ42 production. |
Palmer et al., 1999 |
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.