Mutations Position Table
PSEN1 S390 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| S390I |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown |
Drastic decrease in production of both Aβ40 and Aβ42 in vitro. |
Campion et al., 1999 |
| S390N |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown; MRI showed cerebral amyloid angiopathy. |
Unknown. |
Nicolas et al., 2015 |
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.