Fig. 3

Cartoon depicting (a) Full length RHCE protein as predicted by AlphaFold; b Predicted topology of the protein encoded by the gene with the deletion; and (c) Predicted amino acid sequence of the protein encoded by the gene with the deletion. Variants are indicated based on their amino acid position. Four are in the loops between the transmembrane domains and 11 are within the alpha helices predicted to form the transmembrane domains. The dark gray region (in b) depicting the 4th transmembrane domain is derived downstream of the deletion endpoint which is proximal to the 3′ end of the TMEM50A gene. Transmembrane domains (in c) are depicted in italics. The sequence in the brackets is derived from the fusion created by the deletion