Bioinformatics Analyses of Single Nucleotide Polymorphism Rs398122513 in Bax Gene in Apoptosis

Background and aim: the process of programmed cell death, or apoptosis, is generally characterized by distinct morphological characteristics and energy-dependent biochemical mechanisms. apoptosis is considered a vital component of various processes including normal cell turnover, proper development and functioning of the immune system, hormone-dependent atrophy, embryonic development and chemical-induced cell death. inappropriate apoptosis (either too little or too much) is a factor in many human conditions including neurodegenerative diseases, ischemic damage, autoimmune disorders and many types of cancer. central components of the apoptotic death machinery, which have been conserved throughout evolution , include the bcl-2, apaf-1 (apoptotic protease activating factor 1) and caspase family members. caspases (cysteinyl aspartate-specific proteases) are synthesized as dormant proenzymes that, upon proteolytic activation, acquire the ability to cleave key intracellular substrates2, resulting in the morphological and biochemical changes associated with apoptosis (bax 1). recently, it was found that, in apoptosis triggered by many stimuli, mitochondria play a pivotal role in coordinating caspase activation through the release of cytochrome c. apoptosis regulator bax gene is location 19q 13.33 and has 7 exons. 2848 snps have been reported for this gene wich among them 6 snps are pathogenic variants based on ncbi results. it has 5 isoformations. in this study we analyzed pathogenicity effects of rs 398122513 in bax gene.methods: in this study we analyzed pathogenicity effects of rs 398122513 in bax gene by sift (sorting intolerant from tolerant, is a tool for prediction of snp effect on protein function), polyphen2 (a tool for annotating coding non-synonymous snps) and i-mutant 2.0 (a tool for prediction of protein stability changes upon single point mutation) prediction databases.results: sift database predicted that rs398122513 effects on the protein function with score 0. polyphen2 database is predicted this snp probably damaging with score of 0.995. i-mutant2.0 database is predicted this snp decrease protein stabilityresults: sift database predicted that rs398122513 effects on the protein function with score 0. polyphen2 database is predicted this snp probably damaging with score of 0.995. i-mutant2.0 database is predicted this snp decrease protein stabilityresults: sift database predicted that rs398122513 effects on the protein function with score 0. polyphen2 database is predicted this snp probably damaging with score of 0.995. i-mutant2.0 database is predicted this snp decrease protein stabilityconclusion: in conclusion rs398122513 of bax gene effects on protein function,reduce protein stability and probly associated with disease in human