The Study of the Pathogenicity of SNPs in MT-ND۳ gene using bioinformatics sites

Backgrounds: MT-ND۳ which encoded the NADH dehydrogenase ۳ (ND۳), is a Mitochondrialgene. NADH dehydrogenase is the largest of the complex of the electron transport chain and islocated in the mitochondrial inner membrane, also known as complex I. The MT-ND۳ genewhich is one of the ۷ mitochondrial genes, is coding for the ۱۱۵ amino acid protein. This proteinforms the core of the transmembrane region and is most hydrophobic of the subunit of complexI. The purpose of this study is the identification the pathogenicity of SNPs in the MT-ND۳ gene.Materials and Methods: Among the identified ۷۸۳ missense SNPs in this gene, ۶ pathogenicvariants are retrieved from NCBI, also for identification of pathogenicity of these variants, usedfrom different bioinformatics sites. Then using bioinformatics sites, the stability of structure ofmutant proteins was analyzed. After the identification of high-risk mutations, the changes in thehydrophobicity of mutant proteins were considered.Results: Pathogenic SNPs were screened using bioinformatics sites and was identifiedpathogenicity of SNPs in MT-ND۳. Six pathogenic variants including S۳۴T, S۳۴P, S۴۵P, A۴۷T,D۶۶N, Q۲۶K, and I۶۰T were identified.Conclusion: According to the previous studies, the association of A۴۷T and Q۲۶K amino acidsubstitutions with Leigh syndrome (LS) was confirmed.