Figure 1. The PROM1 protein. A: Shown is a schematic representation of the PROM1 protein and the location of pathogenic mutations reported to date. For frameshift and splicing mutations, the mark indicates the location of the first affected amino acid. The location of amino acids I761–L791, encoded by exon 22, is indicated. The illustration is based on [16]. B: Evolutionary conservation of the PROM1 second extracellular loop. The analysis was performed with the ConSurf Server based on 108 PROM1 orthologs. Amino acids 761–791, included in the deletion, are marked by a box. e, an exposed residue; b, a buried residue; f, a predicted functional residue (highly conserved and exposed); s, a predicted structural residue (highly conserved and buried). C: Multiple sequence alignment of PROM1 amino acids encoded by exon 22 in various organisms. Conserved amino acids are indicated by a black background. Similar amino acids are indicated by a gray background.