The RPS19 gene. The RPS19 gene consists of 6 exons. Exon 1 corresponds to the 5′ untranslated region of the mRNA and translation starts at the first nucleotide of exon 2. The point mutation hotspot region in patients with DBA is shown in yellow. Amino acid numbers are indicated at the start and end of exon 2 through 6. The illustration is not drawn to scale. Several studies have reported detailed mapping of RPS19 mutations in patients with DBA.^20-22