Mutation Spectrum analysis of ITGA3 gene associated with Nephrotic syndrome

Abstract

Abstract Background Nephrotic syndrome is a renal disorder in which the Glomerular Filtration Barrier (GFB) is affected. There is a potential indication that ITGA3 may have a pivotal function in the intricate interaction between cells, morphogens, and the extracellular matrix (ECM) that is essential for the development of the kidneys (nephrogenesis). The present study involves a detailed analysis of the reported missense mutations in the ITGA3 gene through various in silico and bioinformatics tools. The data about reported mutations was collected from HGMD and tools such as PolyPhen-2, SIFT, I-Mutant were used to predict the affects of these mutations. The conservation analysis of this protein was also done by analyzing which mutations fall on the conserved region of the protein and are hence more detrimental.Results A total of 7 mutations were identified, out of which one (A349S) was found to have the least detrimental affect on the protein structure. The phylogenetic analysis of the ITGA protein family was also done to determine the relationship of ITGA3 protein with the other proteins in its family.Conclusion The data obtained in this study is aimed to facilitate future studies on ITGA3 protein and its role in the development of the Nephrotic syndrome, along with the implication of the mutations on the structure and function of the ITGA3 protein. This study also gives an insight on the detrimental effect of the mutations on the protein.