ABSTRACT

The most important genetic cause of Familial Hypercholesterolemia (FH) is mutations occurring in the LDLR gene encoding the Low-density Lipoprotein Receptor. Mutations in this domain account for 51.7% of the total missense variants observed in LDLR. The aim of the current Insilico research work is to find out the involvement of the mutated amino acids in the HTH motifs regions of LDLR protein 3D structure using Insilico protocols. At first, Insilico study was carried out using HTH (Helix-Turn-Helix) motif tool and the HTH motifs regions present in the LDLR protein sequence was identified. Secondarily, the 3D structure of the selected LDLR sequence was explored using an automated homology modelling server and was visualized using an advanced molecular visualization software in order to identify the HTH motifs regions present in the mutated amino acids. The results obtained from this study shows that the mutated amino acids are directly involved in the HTH motif regions. The overall results clearly elucidate that the mutated amino acids are present in the HTH motifs regions and play a vital role in the field of research related to Structure Based –Drug Designing and clinical Pharmacology. Keywords: LDLR, Protein Modelling and HTH (Helix-Turn-Helix) motifs
Publication date: 01/10/2022

https://ijbpas.com/pdf/2022/October/MS_IJBPAS_2022_6506.pdf

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https://doi.org/10.31032/IJBPAS/2022/11.10.6506