A. The human NDC sequence and the cryo-EM structure of the MT-bound conformation, including the short N-terminal flanking region. Pathogenic mutation sites (Appendix Table S1) are indicated in the sequence with red circles. Side chains of residues representing the mutation sites are depicted in green if they contribute to protein surface (mediate or likely mediate MT binding) or white if they lie in the domain core. MT-binding residues are numbered, and secondary structures are labelled. H, α-helix; S, β-strand. 