FIGURE 2.

ODC1 gain‐of‐function variants for all nine cases thus far. (a) Exon map of the ODC1 gene, where exon 3–12 code for the ODC protein (dark green). Light green represents the untranslated regions of the gene. (b) Sequence alignment of ODC and resulting patient proteins. Conservation is shown on the top for 220 vertebrate species on a scale of 1–9 with 9 highest. Splice site of exons 11 and 12 is shown in yellow. The position of the gain‐of‐function mouse model stop codon is marked with X. (c) Protein model of the ODC dimer with exon 12 sequence marked in red