Evidence map›Paper›PMID 40370698›Full record

ArticleFrontiers in genetics2025

Impact of nonsynonymous single nucleotide polymorphisms in

Hytham Ahmed Abuagla, Khalid Mohamed Adam, Mohamed E Elangeeb, Elsadig Mohamed Ahmed, Elshazali W Ali, Ali M Edris, Abubakr Ali Elamin MohamedAhmed, Elmoiz Idris Eltieb, Tarig Babikir Algak Khalid, Bahaeldin K Elamin and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
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

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

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

12 authors.

Hytham Ahmed AbuaglaDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Khalid Mohamed AdamDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Mohamed E ElangeebDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Elsadig Mohamed AhmedDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Elshazali W AliDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Ali M EdrisDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Abubakr Ali Elamin MohamedAhmedDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Elmoiz Idris EltiebDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Tarig Babikir Algak KhalidDepartment of Pathology, College of Medicine, University of Bisha, Bisha, Saudi Arabia.
Bahaeldin K ElaminDepartment of Microbiology and Clinical Parasitology, College of Medicine, University of Bisha, Bisha, Saudi Arabia.
Hiba Mahgoub Ali OsmanDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.
Ebtehal Salih IdrisDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, Bisha, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Thrombosis is a serious vascular disorder influenced by genetic factors, including nonsynonymous single nucleotide polymorphisms (nsSNPs) in the Methods: We employed a multi-layered computational approach to analyze 217 nsSNPs in the Results: Our integrated analysis identified three high-risk nsSNPs-T174I, N136I, and L168P-that detrimentally affect EPCR function. These variants disrupt critical glycosylation sites, α-helix integrity, and catalytic residues, leading to increased root mean square deviation (RMSD) and root mean square fluctuation (RMSF), reduced hydrogen bonding, and higher solvent-accessible surface area (SASA) in mutants compared to the wild-type. Disease association tools further linked these mutations to an elevated thrombotic risk. Discussion: These findings suggest that the identified nsSNPs destabilize EPCR by altering its structural dynamics and reducing its capacity to activate protein C. This provides mechanistic insight into how Conclusion: Our study demonstrates that deleterious nsSNPs in the

Indexed as

EPCRmolecular dynamicsnsSNPsPROCRprotein stabilitythrombosis

Identifiers

PMID40370698
PMCPMC12075529

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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 Socratic graph.