Mutations Position Table
SORL1 R1080 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1080H |
Substitution | Substitution | Missense | Coding | Exon 23 | Unknown. |
Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. |
Campion et al., 2019 |
| R1080C |
Substitution | Substitution | Missense | Coding | Exon 23 | Unknown. |
Unknown; predicted deleterious. |
Fernández et al., 2016; Andersen et al., 2023 |
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.