Molecular modelling of disease-causing single-nucleotide polymorphisms in collagen

The purpose of the work was to investigate at the molecular structural and energy levels the consequence of amino acid substitutions in collagen that cause systemic diseases. The data have been systematized on defects in huma n collagen III, and the patterns of single-nucleotide polymorphisms collect ed. Then molecular mechanics calculations were performed for native and mut ant collagen molecule fragments. The observed energy components and structu ral alterations that accompany particular amino acid substitutions were use d to propose an interpretation of negative consequences in terms of stabili ty and hydration of the macromolecule.