Biopolymers and cell. 2007; 23 (5): 448 - 454

Bioinformatical analysis of influence of human tyrosyl-tRNA synthetase mutations associated with neuropathy Charcot-Marie-Tooth, type C, on its local spatial structure properties

K. A. Odynets, A. I. Kornelyuk

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 (2x39 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.