Exploring the Structural and Functional Consequences of Deleterious Missense Nonsynonymous SNPs in the EPOR Gene: A Computational Approach
The computational analysis of missense nsSNPs in the <i>EPOR</i> gene identified two missense SNPs, R223P and G302S, as deleterious, occurring at highly conserved regions, and having substantial effects on erythropoietin receptor (EPO-R) protein structure and function, suggesting their potential pathogenic consequences.
Authors
- Elshazali Widaa Ali (ORCID: https://orcid.org/0000-0003-2787-2055)
- Abubakr Ali Elamin MohamedAhmed (ORCID: https://orcid.org/0000-0001-6149-396X)
- Ali Mahmoud Mohammed Edris (ORCID: https://orcid.org/0000-0001-5914-4787)
- Elsadig Mohamed Ahmed (ORCID: https://orcid.org/0000-0002-5027-7206)
- Hytham Ahmed Abuagla
- Khalid Mohamed Adam (ORCID: https://orcid.org/0000-0003-2381-1968)
- Elmoiz Idris Eltieb (ORCID: https://orcid.org/0000-0001-9800-8833)
- Hiba Mahgoub Ali Osman
- Mohamed E. Elangeeb
- E Idris
Institutions
- University of Bisha (SA)
Publication Details
- Journal
- Journal of Personalized Medicine
- Published
- 2024-11-20
- DOI
- https://doi.org/10.3390/jpm14111111
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- University of Bisha