Evidence map›Paper›PMID 42694451›Full record

ArticleHuman mutation2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human

Rizwana Kousar, Sadia Latif, Mohammed Turki Hussain Alharthi, Sidra Tabassum, Muzammil Ahmad Khan, Abdulfatah M Alayoubi, Morad Qarmali, Muhammad Latif

Abstract read
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Rizwana KousarDepartment of Biology, Allama Iqbal Open University, Islamabad, Pakistan, aiou.edu.pk.ORCID https://orcid.org/0000-0002-5149-7753
Sadia LatifDepartment of Biology, Allama Iqbal Open University, Islamabad, Pakistan, aiou.edu.pk.ORCID https://orcid.org/0000-0002-2357-0773
Mohammed Turki Hussain AlharthiDepartment of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia, taibahu.edu.sa.ORCID https://orcid.org/0000-0002-1730-2086
Sidra TabassumFederal Medical College, Islamabad, Pakistan.ORCID https://orcid.org/0009-0009-6540-1044
Muzammil Ahmad KhanGomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan (D.I. Khan), Khyber Pakhtunkhwa, Pakistan, gu.edu.pk.ORCID https://orcid.org/0000-0001-8591-0377
Abdulfatah M AlayoubiDepartment of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia, taibahu.edu.sa.ORCID https://orcid.org/0000-0001-9250-940X
Morad QarmaliDepartment of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia, taibahu.edu.sa.ORCID https://orcid.org/0009-0002-8489-0217
Muhammad LatifDepartment of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia, taibahu.edu.sa.ORCID https://orcid.org/0000-0003-4858-3324

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The Aims and Objectives: Considering the multifaceted role of Methodology: In the present investigation, a wide array of in silico tools was deployed to explicate putative pathogenic missense/nsSNPs that might impact the structural integrity and molecular functions of Results: In the initial screening, SIFT, PolyPhen-2, SNAP2, Align GVGD, PhD-SNP, PANTHER, and SNPs&GO revealed 23 potential deleterious SNPs in Conclusion: The potentially deleterious nsSNPs predicted in this study can be of great significance in understanding

Indexed as

Cytoskeletal ProteinsNerve Tissue ProteinsPolymorphism, Single NucleotideCell Cycle ProteinsComputational BiologyComputer SimulationHumansModels, MolecularProtein ConformationStructure-Activity RelationshipCell Cycle ProteinsCytoskeletal ProteinsMCPH1 protein, humanNerve Tissue Proteinsin silico toolsMCPHMCPH1nsSNPs

Identifiers

PMID42694451
PMCPMC13539433

What OpenQuestion holds

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Registered trials

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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.