FIGURE 2.

Schematic representation of pathogenic variants in the dopamine beta hydroxylase gene and pathogenic variants in DBH deficiency. Introns are shown in gray, exons in black and numbered 1 to 12, and UTR's in dark‐gray. Intron lengths are not to scale, while exon sizes are. The coding DNA positions of the first bases of each exon are shown above the schematic. In DBH‐deficiency, 2 intronic pathogenic variants and 8 exonic pathogenic variants have been described sofar, and are depicted under the schematic. The HGVS nomenclature is done using reference sequence NM_000787.4. The respective protein variants are given in Table 1