Evidence map›Paper›PMID 39590603›Full record

ArticleJournal of personalized medicine2024

Exploring the Structural and Functional Consequences of Deleterious Missense Nonsynonymous SNPs in the

Elshazali Widaa Ali, Khalid Mohamed Adam, Mohamed E Elangeeb, Elsadig Mohamed Ahmed, Hytham Ahmed Abuagla, Abubakr Ali Elamin MohamedAhmed, Ali M Edris, Elmoiz Idris Eltieb, Hiba Mahgoub Ali Osman, Ebtehal Saleh Idris

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Article in Journal of personalized medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Elshazali Widaa AliDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.ORCID 0000-0003-2787-2055
Khalid Mohamed AdamDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.ORCID 0000-0003-2381-1968
Mohamed E ElangeebDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.
Elsadig Mohamed AhmedDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.ORCID 0000-0002-5027-7206
Hytham Ahmed AbuaglaDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.ORCID 0000-0001-7455-2412
Abubakr Ali Elamin MohamedAhmedDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.ORCID 0000-0001-6149-396X
Ali M EdrisDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.
Elmoiz Idris EltiebDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.ORCID 0000-0001-9800-8833
Hiba Mahgoub Ali OsmanDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.ORCID 0000-0002-3705-5844
Ebtehal Saleh IdrisDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations in the METHODOLOGY: In this study, a range of bioinformatics tools, including SIFT, PolyPhen-2, SNAP2, SNPs & Go, PhD-SNP, I-Mutant2.0, MuPro, MutPred, ConSurf, HOPE, and Interpro were used to assess the deleterious effects of missense nonsynonymous single nucleotide polymorphisms (nsSNPs) on protein structure and function. Furthermore, molecular dynamics simulations (MDS) were conducted to assess the structural deviations of the identified mutant variants in comparison to the wild type.

resultsThe results identified two nsSNPs, R223P and G302S, as deleterious, significantly affecting protein structure and function. Both substitutions occur in functionally conserved regions and are predicted to be pathogenic, associated with altered molecular mechanisms. The MDSs indicated that while the wild-type EPOR maintained optimal stability, the G302S and R223P variants exhibited substantial deviations, adversely affecting overall protein stability and compactness.

conclusionsThe computational analysis of missense nsSNPs in the

Indexed as

EPOR geneerythropoietin receptornonsynonymous single nucleotide polymorphisms

Identifiers

PMID39590603
PMCPMC11595312

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.