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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Hum Mutat. 2019 Aug 2;40(9):1346–1363. doi: 10.1002/humu.23822

Figure 4. The novel likely hypomorphic mutation of CASK may alter L27 domain dimerization.

Figure 4.

A) Covariation network of L27 domain (PF02828). Nodes are the residues (L27 domain numbering) coloured by conservation from red to light blue (highest to lowest respectively). B) Nodes are coloured by cumulative Mutual information (cMI) from violet to yellow (highest to lowest respectively). Edges are the top 0.1% covariation scores (Mutual Information) calculated with Mistic2 (Colell et al., 2018). C) Ribbon representation of the L27- SAP97 complex. CASK domain L27 is coloured green (chain B 1RSO PDB) and SAP97 violet (chain A 1RSO PDB). In sticks are shown the residues that interact (their R) with Y387 in the complex. D) same coloring schema. Y387 was “in silico” mutated to H387. Mutation and figures were generated by UCSF Chimera (Pettersen et al., 2004).