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 human collagen III, and the patterns of single-nucleotide polymorphisms collected. Then molecular mechanics calculations were performed for native and mutant collagen molecule fragments. The observed energy components and structural alterations that accompany particular amino acid substitutions were used to propose an interpretation of negative consequences in terms of stability and hydration of the macromolecule.
Milchevsky
J V
JV
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 32 Vavilov str., Moscow, 117984 Russia.
Ramensky
V E
VE
Esipova
N G
NG
Tumanyan
V G
VG
Zorov
B S
BS
D019943:Amino Acid Substitution; D003094:Collagen / Q000737:chemistry* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008958:Models, Molecular; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013329:Structure-Activity Relationship
D003094:Collagen