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<p>The genes <i>NBN</i> and <i>MLH1</i> 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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年5月2日

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

摘要

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.