Mutations in Cytochrome C Oxidase and its biological impact

Bioinformatics is a process of applying informatics through various methods in order to find the information related to biology understanding. This process is very crucial because it enhances predictions, and also to analyse something that cannot be done experimentally. Cytochrome C Oxidase is a membrane protein or enzyme, which plays an important role in aerobic life, due to its specific ability to deactivate oxygen which involved in respiratory chain. The main objective of this work is to compare the healthy structure of the Cytochrome C Oxidase with the given mutant Cytochrome C Oxidase nucleotide sequence. We have performed Basic Local Alignment (BLAST). Therefore, the determination of original sequence is obtained which is Homo sapiens cytochrome c oxidase subunit Vb (COX5B) gene with accession number of U41284.1 and 5624 base pairs available in NCBI database. Next, we need to determine whether the mutation occurred may affect the protein structure of Cytochrome C Oxidase, and visualize the structure of given protein sequence of Cytochrome C Oxidase by using suitable software such as Cn3D, Rasmol. From the findings, we can conclude that the deletion mutation of the base pairs does not affect the COX5B structure after conducting DNA sequence translation into the protein sequence. And finally, we need to investigate the mutations involved in given nucleotide sequence of Homo Sapiens Cytochrome C Oxidase, and its biological impact. The biological impacts include production of Reactive Oxygen Species (ROS), disfunction of mitochondria, Spinobulbar Muscular Artrophy (SBMA), and overexpression of Bcl-2 in cancer cells.