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Molecular modeling of MYO7A p.Leu1935del comparing wild-type (a) and mutant (b) proteins. Loss of one out of three leucine residues (pink) at the edge of the αA helix of the F1 lobe within the FERM2 domain of the MYO7A protein is predicted to result in unraveling not just of the αAF1 helix but also of the αBF1 helix. The variant is expected to cause misfolding of the F1 lobe and poor contact between F1 and the central/CEN1 domain of SANS protein.
