Browsing by Author "AQSA MAJID"

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    Insilico analysis of functional snps in human myo1c gene associated with focal segmental glomerulosclerosis
    (UMT, Lhr, 2020) AQSA MAJID
    Myosin are actin based molecular motor proteins involved in intracellular cargo by interacting with different membranous compartments. A point mutation in Myo1C gene is associated with Focal Segmental Glomerulosclerosis (FSGS), a histologic lesion of kidney that further leads to a number of nephrotic disorders and more often leads towards end stage renal diseases (ESRD). In this study, functional SNPs of Myo1C associated with FSGS are analyzed by different bioinformatics tools. Four mutated variants of Myo1C S24R, R131C, R138P and N1015K are predicted deleterious in all sequence homology based methods including SIFT, PROVEAN and PANTHER. In supervised learning method, only one variant S24R is predicted deleterious in all software including SNP&GO, PhD-SNP, SNAP2 and SuSPect. Further analysis on structure and consensus basis include two tools namely Meta-SNP and PolyPhene-2 predicted three variants S24R, R131C and R138P as deleterious mutations of Myo1C gene. Hence it is concluded that the variant S24R is the most functionally deleterious mutation of Myo1C as it is predicted deleterious in all tools applied. These mutated variants of Myo1C are further subjected to structural comparison by PyMOL which depict possible impact of these mutations on the structure of myo1C that is expected to leads to the onset and progression of FSGS.