In silico Analysis of nsSNPs in the Human ACTN4 Gene associated with a Steroid-Resistant Nephrotic Syndrome

Abstract

The main motive of this study is to discover nsSNPs of ACTN4 gene through various insilico views. ACTN4 is one of the proteins that play a leading role in cellular pathways by altering cytoskeletal behaviour associated with steroid-resistant nephrotic syndrome. Data of ACTN4 was collected from NCBI dbSNP and Uniport KB and further used to explore adverse outcome using SIFT, PolyPhen, PROVEAN and SNAP2.Out of 11 nsSNPs selected in this study, three nsSNPs rs121908415 at position K255E, rs878853159 at position G195D, and rs1114167420 at position M240T were predicted as deleterious by SIFT, PROVEAN, PolyPhen and SNAP2. Decrease instability due to mutation was observed in these three nsSNPs through I-Mutant2.0. We modelled 3D structure using I-TASSER and stability of built structure was confirmed via Procheck to get a Ramachandran plot. There were several PTM sites identified in ACTN4 protein. This study shows that K255E, G195D and M240T variants of ACTN4 could somehow disrupt the amino acid interaction that will affect the function of the protein to some extent.

Keywords: ACTN4 gene, in silico views, steroid-resistant nephrotic syndrome, nsSNPs (Non-synonymous single nucleotide polymorphisms), PTM (Post-Translational modification)

Cite this Article

Parmar Glory S, Mistry Kinnari N, Rank Dharamshibhai N, et al. In silico Analysis of nsSNPs in the Human ACTN4 Gene associated with a Steroid-Resistant Nephrotic Syndrome. Research & Reviews: A Journal of Health Professions. 2018; 8(Issue 3 Special): 43s-52s.