Computational protocol: Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

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Protocol publication

[…] The crystal structure of human MRM2 was obtained from the Protein Data Bank (PDB ID: 2NYU). To build the structure of MRM2 harboring the p.Gly189Arg amino acid substitution, both wild-type and mutated models were generated by SWISS-MODEL (), using sequence inputs based on the protein reference sequence for MRM2 (UniProtKB: Q9UI43) (), and 2NYU as a structural template. Since there is no spatial information for the 50 N-terminal residues of MRM2 in the 2NYU crystal structure, these were omitted in the input sequences. Global quality of the generated models was assessed by the QMEAN Z-score, which was 1.07 for the wild-type model and 0.77 for the p.Gly189Arg model. PyMOL (Molecular Graphics System, Version 1.8 Schrödinger, LLC) was used to visualize and render images from all structures. […]

Pipeline specifications

Software tools SWISS-MODEL, QMEAN, PyMOL
Databases UniProtKB
Application Protein structure analysis
Organisms Homo sapiens, Saccharomyces cerevisiae
Chemicals Amino Acids