Evidence map›Paper›PMID 40312597›Full record

ArticleJournal of applied genetics2026

Identification of non-synonymous SNPs affecting structure and function of MLH1 and NBN proteins: a computational approach.

Vaishnavi Gund, Siddharth Sharma, Swet Chandan, Shashank Garg, Sidhartha Singh

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Article in Journal of applied genetics, 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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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Vaishnavi GundDepartment of Biosciences and Bioengineering, D Y Patil International University Akurdi, Pune, 411044, Maharashtra, India.
Siddharth SharmaDepartment of Biotechnology, Thapar Institute of Engineering & Technology, Patiala, Punjab, 147004, India.
Swet ChandanDepartment of Biosciences and Bioengineering, D Y Patil International University Akurdi, Pune, 411044, Maharashtra, India.
Shashank GargLovely Professional University, Phagwara, Punjab, India.
Sidhartha SinghDepartment of Biosciences and Bioengineering, D Y Patil International University Akurdi, Pune, 411044, Maharashtra, India. sidharthasin@gmail.com.ORCID http://orcid.org/0000-0003-4293-7662

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genes NBN and MLH1 are critical for DNA repair, and this study aimed to detect and predict the effects of pathogenic single nucleotide polymorphisms (SNPs) in their mRNA and protein sequences. An in silico analysis assessed the impact of SNPs on the physicochemical properties, structure, stability, and function of MLH1 and NBN proteins. Results revealed that some SNPs significantly alter protein stability, structure, and binding interactions, potentially impairing DNA repair. Molecular docking studies further indicated disruptions in protein-protein interactions due to specific SNPs. These findings underscore the importance of using in silico methods to predict the functional effects of genetic variations, providing insights that could guide personalized treatments and improve cancer detection.

Indexed as

Cell Cycle ProteinsMutL Protein Homolog 1Nuclear ProteinsPolymorphism, Single NucleotideComputational BiologyComputer SimulationDNA RepairHumansMolecular Docking SimulationProtein BindingProtein StabilityCell Cycle ProteinsMLH1 protein, humanMutL Protein Homolog 1NBN protein, humanNuclear ProteinsCancerDockingMLH1NBNProteinSingle nucleotide polymorphism

Identifiers

PMID40312597

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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.