Figure 3.

A and B: Overview of the non‐MVID/intrahepatic cholestasis‐associated MYO5B mutations in the different domains of the myosin Vb protein. Mutations indicated in black, red, blue, and gray letter color represent missense, frameshift/nonsense, deletions/insertions, and splicing mutations, respectively. The differently colored blocks associated with each mutation in the protein domains represent the predicted consequences for the protein (black: premature termination, magenta: mutations in regions important for the allosteric rearrangements of the myosin motor head during the kinetic cycle, orange: mutations that may lead to protein misfolding, red: mutations in the ATP‐binding site, green: mutations in regions that are important for actin interactions. Black lines between individual mutations indicate their combined presence in a single patient. B: The missense mutations found in the motor domain of myosin Vb associated with non‐MVID patients with intrahepatic cholestasis are depicted with the following color code: green: mutations in regions that are important for actin interactions, red: mutations in the ATP‐binding site, magenta: mutations in regions of importance for allosteric rearrangements of the myosin head during the motor cycle, orange: mutations that may lead to protein misfolding)