Mutations Position Table
SORL1 F1765 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| F1765F |
Substitution | Substitution | Silent | Coding | Exon 39 | Unknown. |
Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and neutral by PROVEAN. |
El Bitar et al., 2019 |
| F1765C |
Substitution | Substitution | Missense | Coding | Exon 39 | Unknown. |
Unknown. |
Campion et al., 2019; 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.