Computational analysis of nsSNPs of NPHS1 gene and their effect on protein structural stability

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• 作者：Bhoomi B. Joshi ; Kinnari N. Mistry ; ^{kinnarimistry@aribas.edu.in} ; ^{kinnarinmistry@yahoo.com}
• 关键词：NPHS1 ; nephrosis-1-congenital ; finish type ; SNP ; single nucleotide polymorphisms ; SIFT ; sorting intolerant from tolerant ; PROVEAN ; protein variation effect ANalyzer ; nsSNP ; non-synonymous single nucleotide polymorphism ; PYMOL ; project molecular and cellular biology ; QMEAN ; qualitative model energy analysis ; FSGS ; focal segmental glomerulosclerosis ; SRNS ; steroid resistance nephrotic syndrome ; PPI ; protein-protein interaction
• 刊名：Meta Gene
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：11
• 期：Complete
• 页码：98-103
• 全文大小：599 K
• 卷排序：11

文摘

Comparative analysis predicted nsSNP, P770L of NPHS1 gene to be damaging with a score of 0.03. Structural analysis predicted nsSNPs, Y1217D, T294I and S1042F could possibly alter the phosphorylation sites of nephrin. Docking analysis of wild type against mutant revealed the poor interaction of nephrin with podocin protein.