26. Insight into RIPK4 mutations I121N and T184I involved in popliteal pterygium syndrome lethal type using computational methods

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Mirza Jawad ul Hasnain, Amina Sarwar, Tehreem Anwar, Tahera Aslam, Muhammad Tariq Pervez


In this study, computational analysis has been conducted to analyze the wild and mutant RIPK4 (Receptor-Interacting Serine/Threonine-Protein Kinase 4) gene using in silico approach. RIPK4 is a receptor-interacting serine/threonine-protein kinase that gives a large impulse for the development of stratified epithelium in the same manner as an explicit transcriptional recipient for TP63 that is responsible for the regulation of molecular events involved in the prevention of Pterygium syndrome. Homozygous transitional mutations in RIPK4, Ile121Asn, and Thr184Ile are reported to be the ground reason of functional impairment of RIPK4 cause Lethal Type of Popliteal Pterygium Syndrome. Several in silico approaches were performed through different bioinformatics software and online tools for Structure prediction, Evolutionary analysis, Pocket identification, and docking analysis. Results of protein superimposition clearly showed the change in the structures of wild type and mutant type of RIPK4, where both mutations alter the normal structure of protein leading to change in its interaction site and conformations due to which the interacting capabilities of RIPK4 are affected that might be resulting in the alteration of function. Evolutionary analysis of RIPK4 indicated a close phylogenetic association between Homo sapiens and Pan troglodytes among 15 orthologs. In silico analysis and computational methods have opened many doors for understanding several diseases in a time and cost-effective way. Protein-ligands docking effectively proved the structural alteration caused by the said mutations and can be used in developing drug therapies, accurate diagnosis, and better therapeutic strategies for the patients. 

Keywords: Docking; Mutation; Pterygium syndrome; Phylogenetic analysis; RIPK4; Superimposition


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