Biopolym. Cell. 2007; 23(5):449-460.
Bioinformatics
Bioinformatical analysis of influence of human tyrosyl-tRNA synthetase mutations associated with neuropathy Charcot-Marie-Tooth, type C, on its local spatial structure properties
1Odynets K. A., 1Kornelyuk A. I.
- Institute of Molecular Biology and Genetics, NAS of Ukraine
150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680
Abstract
A causal relationship between three independent mutant forms of the human cytoplasmic tyrosyl-tRNA synthetase (TyrRS) and dominant Charcot-Marie-Tooth neuropathy, type C, (DI-CMTC) has been recently reported . In this article we carried out the bioinformatical investigation of the effect of amino acid residues change in the cases of two point mutations Gly41Arg, Glu196Lys and deletion 153–156delVKQV on structural properties of catalytic module dimer of TyrRS (2 × 39 kDa or, so called, mini-TyrRS), especially on its local environment and electrostatic potential of molecular surface of the protein.
Keywords: tyrosyl-tRNA synthetase, neuropathy Charcot-Marie-Tooth type C, spatial structure, computer mutagenesis
Full text: (PDF, in English) (PDF, in Ukrainian)
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