Fig. 2
In silico protein modeling of pathogenic/likely pathogenic non-truncating TSPEAR variants
(A) Left shows the AlphaFold-predicted structure of TSPEAR with all missense/in-frame indels plotted; note the propensity for these to affect the β-propeller. Right shows the surface of the predicted TSPEAR structure showing overall charge. Note the pocket of negative charge (red) within the inner surface of the β-propeller. Conservation scores are shown below mapped to the predicted structure surface showing conservation of the residues (purple) within the inner surface of the β-propeller.
(B) Molecular models for all missense/in-frame indels in this study produced by Modeller 9.24. Steric clashes are shown by red discs. Yellow dotted lines indicated interacting residues.