Fig. 2
Effect of the Arg790Gln variant in the 3D structure of the elbow domain of the human SMC1A protein. (a) Spatial arrangement of the human SMC1A and SMC3 protein model. The SMC1A protein is colored according to its secondary structure elements. The positions of the head, hinge, and elbow domains are indicated, with amino acid Arg790 (R790) marked as a magenta sphere. (b) Distance (in Angstroms) between the alpha carbons of amino acids Arg790 (or Gln790) and Glu767 throughout the trajectory of an unrestricted molecular dynamics simulation of the elbow domain in the wild-type SMC1A protein (wt) and the Arg790Gln variant (R790Q). (c) Structure of the SMC1A elbow domain model before (left, t = 0 ns) and after 200 ns of molecular dynamics simulation, for both the wild-type protein (middle, wt (t = 200 ns)) and the Arg790Gln variant (right, R790Q (t = 200 ns)). The positions of the amino acids Arg790 (R790), Asp774 (D774) and Glu767 (E767), as well as the position of Gln790 (Q790) in the Arg790Gln variant, are indicated.
