In silico analysis of nsSNPs in human methyl CpG binding protein 2
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- 作者：Mansi Desai ; Jenabhai Chauhan ; jenabhaichauhan@aribas.edu.in" class="auth_mail" title="E-mail the corresponding author ; jbc109@gmail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：MECP2 ; methyl CpG binding protein 2 ; SNP ; single nucleotide polymorphism ; SIFT ; sorting intolerant from tolerant ; PolyPhen ; phenotype polymorphism ; nsSNP ; non synonymous single nucleotide polymorphism ; OMIM ; online Mendelian inheritance in man ; MUSTER ; multi-sources ThreadER ; NCBI ; National Center for Biological Information ; PANTHER ; protein analysis through evolutionary relationship ; SNPs&GO ; single nucleotide polymorphism database and gene ontology
- 刊名：Meta Gene
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：10
- 期：Complete
- 页码：1-7
- 全文大小：1101 K
文摘
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The aim of the present study is to predict the deleterious non-synonymous SNPs of MECP2 gene.
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T170M and R318C found to be most damaging.
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3D structure of the native and mutant protein predicted by MUSTER.
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Mutant model found less stable as compared to native model.