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(A) Domain structure of FOXRED1 with all the variants identified in the described cases. In light blue, the cleavable mitochondrial targeting sequence is shown or displayed. DAO—FAD-dependent oxidoreductase. (B) FOXRED1 protein modeling wild-type and FOXRED1 protein modeling with the mutation p.G307E, reflecting the predicted consequences in the spatial protein structure due to the change of the non-polar amino acid Glycine to the negatively charged Glutamic acid.
