Exploring the Structural and Functional Consequences of Deleterious Missense Nonsynonymous SNPs in the EPOR Gene: A Computational Approach

Mutations in the gene can disrupt its normal signaling pathways, leading to hematological disorders such as polycythemia vera and other myeloproliferative diseases. In this study, a range of bioinformatics tools, including SIFT, PolyPhen-2, SNAP2, SNPs & Go, PhD-SNP, I-Mutant2.0, MuPro, MutPred,...

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Veröffentlicht in:	Journal of personalized medicine 2024-11, Vol.14 (11), p.1111
Hauptverfasser:	Ali, Elshazali Widaa, Adam, Khalid Mohamed, Elangeeb, Mohamed E, Ahmed, Elsadig Mohamed, Abuagla, Hytham Ahmed, MohamedAhmed, Abubakr Ali Elamin, Edris, Ali M, Eltieb, Elmoiz Idris, Osman, Hiba Mahgoub Ali, Idris, Ebtehal Saleh
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Amino acids Analysis Bioinformatics Computer applications Disease Erythropoietin Erythropoietin receptors Granulocytes Hematological diseases Kinases Medical research Medicine, Experimental Molecular dynamics Molecular modelling Mutants Mutation Myeloproliferative diseases Phosphorylation Polycythemia Polycythemia vera Protein structure Proteins Single nucleotide polymorphisms Single-nucleotide polymorphism Structure-function relationships Support vector machines
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