In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome
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- 作者：Bhoomi B. Joshia ; Prakash G. Koringab ; Kinnari N. Mistrya ; kinnarimistry@aribas.edu.in" class="auth_mail" title="E-mail the corresponding author ; kinnarinmistry@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Amrut K. Patelb ; Sishir Gangc ; Chaitanya G. Joshib
- 关键词：TRPC6 ; Transient Receptor Potential cation Channel-6 ; dbSNP ; database of Single Nucleotide Polymorphism ; nsSNPs ; non-synonymous SNPs ; A.A. ; Amino Acid ; SIFT ; Sorting Intolerant From Tolerant ; PolyPhen ; Phenotype Polymorphism ; PANTHER ; Protein ANalysis THrough Evolutionary Relationships ; PROVEAN ; PROtein Variation Effect ANalyzer ; PYMOL ; Project Molecular and Cellular Biology ; QMEAN ; Qualitative Model Energy ANalysis ; MUSTER ; MUlti-Sources ThreadER
- 刊名：Gene
- 出版年：2015
- 出版时间：1 November 2015
- 年：2015
- 卷：572
- 期：1
- 页码：8-16
- 全文大小：2116 K
文摘
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The aim of this study is to identify functional non-synonymous SNPs of TRPC6 gene.
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N157T and A404V were found to be damaging.
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The energy values of a mutant model showed discrete changes compared to a wild-type.
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N157T and A404V lead to alteration in glycation and in a ligand binding site of TRPC6.