Exploring the Ultra-Rare Truncating Protein Variant Missense Mutation and Regulatory SNPs of the Human PRDM16 Using in Silico Approach

Abstract

Background: Genomics is one of the disciplines of modern medicine that focuses on identifying causative genes and their related variations that may have an impact on complex disorders. Candidate gene association studies are critical for determining the genetic relationship of genomic variations with complicated illnesses. Aim: The goal of this study is to anticipate the likely relationship of PRDM16 gene variations with negative effects on structural and functional features using online computational tools. Methodology: An insilico approach was utilized to find out the rare variant in the PRDM16 gene. Result: We found eight missense variants including rs572205989, rs201814961, rs572178955, rs182452331, rs551202646, rs554705536, rs184929979 and rs573567598that could play a role in the development of disease. Discussion & conclusion: This methodology can be used in future genomes and association studies, but it must be tested in a model organism and cell culture. This research could be useful in personalized therapy and could lead to the discovery of new therapeutic markers for a variety of disorders.