Researches have revealed that functional non-synonymous Single Nucleotide Polymorphism (nsSNPs) present in the Zinc-finger with UFM1-Specific Peptidase domain protein (ZUFSP) may be involved in genetic instability and carcinogenesis. For the first time, we employed in-silico approach using predictive tools to identify and validate potential nsSNPs that could be pathogenic. Our result revealed that 8 nsSNPs (rs 112738382, rs 140094037, rs 201652589, rs 201847265, rs 202076827, rs 373634906, rs 375114528, rs 772591104) are pathogenic after being subjected to rigorous filtering process. The structural impact of the nsSNPs on ZUFSP structure indicated that the nsSNPs affect the stability of the protein by lowering ZUFSP protein stability. Furthermore, conservation analysis showed that rs 201652589, rs 140094037, rs 201847265, and rs 772591104 were highly conserved. Interestingly, the protein–protein affinity between ZUFSP and Ubiquitin was altered rs 201652589, rs 140094037, rs 201847265, and rs 772591104 had a binding affinity of − 0.46, − 0.83, − 1.62, and − 1.12 kcal/mol respectively. Our study has been able to identify potential nsSNPs that could be used as genetic biomarkers for some diseases arising as a result of aberration in the ZUFSP structure, however, being a predictive study, the identified nsSNPs need to be experimentally investigated.

研究表明存在于锌指中且具有UFM1特异性肽酶结构域蛋白（ZUFSP）的功能性非同义单核苷酸多态性（nsSNPs）可能与基因不稳定和致癌作用有关。第一次，我们使用预测性工具采用计算机内方法来识别和验证潜在的可能致病的nsSNP。我们的结果显示，经过严格的过滤过程后，有8个nsSNP（rs 112738382，rs 140094037，rs 201652589，rs 201847265，rs 202076827，rs 373634906，rs 375114528，rs 772591104）具有致病性。nsSNP对ZUFSP结构的结构影响表明nsSNP通过降低ZUFSP蛋白质稳定性来影响蛋白质的稳定性。此外，保护分析显示，rs 201652589，rs 140094037，rs 201847265，rs 772591104是高度保守的。有趣的是，ZUFSP和泛素之间的蛋白质亲和力发生了变化，rs 201652589，rs 140094037，rs 201847265和rs 772591104的结合亲和力分别为-0.46，-0.83，-1.62和-1.12 kcal / mol。我们的研究已经能够鉴定出潜在的nsSNPs，它们可以用作因ZUFSP结构异常而引起的某些疾病的遗传生物标记，但是，作为一项预测性研究，所鉴定的nsSNPs需要进行实验研究。