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bioRxiv · 10.1101/602615

In-Silico Analysis of nsSNPs Associated with CYP11B2 Gene

Tariq, M.·Arooj, A.·Gillani, Z.·Tufail, A.·Chaudhry, M. T.·Babar, M. E.·Chohan, T. A.
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Abstract

CYP11B2 gene is located over the upper layer of the kidney. It produces aldosterone synthase enzyme and thereby has an essential role to balance salt and mineral level in the body. A mutation in this gene can deregulate the production of aldosterone hormone in the body which may lead to many diseases including hypertension and cardiac diseases. To control the excess production of this aldosterone an inhibitor \"Fadrozole\" is being used which is associated with an active site cavity of CYP11B2. This study has been divided into two parts. In the first part, the four computational tools (SIFT, Polyphen-2, I-Mutant, ConSurf) were used to identify 29 deleterious SNPs out of 1600 CYP11B2 SNPs. In the second part, five residues (R448G, R141P, W260R, F130S, and F445S) were identified in the active site cavity (out of 29 deleterious CYP11B2 SNPs) at the distance of 5A{degrees}. Binding free energy calculation as well as Dynamics simulation techniques were applied to determine the effect of these mutations on the CYP11B2-Fadrozole compound. The results showed that Fadrozole binding with CYP11B2 became stronger which proved the efficiency of this drug inhibitor with these highly damaging mutations. Our study will be useful for selecting the high priority CYP11B2 mutations, which could be further, investigated in this gene-associated study, for better understanding of the structural and functional aspects of the observed (CYP11B2) protein.

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Tariq, M., Arooj, A., Gillani, Z., Tufail, A., Chaudhry, M. T., Babar, M. E., Chohan, T. A.. 2019-04-08. In-Silico Analysis of nsSNPs Associated with CYP11B2 Gene. https://doi.org/10.1101/602615

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