Fig 5.

Molecular lesions in the UROS gene causing CEP. Coding exons are shown as solid black rectangles. ATG is the initiation of translation codon of the housekeeping and erythroid transcripts. Missense and nonsense mutations are indicated by the one-letter amino acid code and codon position, e.g. Q155X = glutamine codon (Q) at position 155 replaced by a termination codon (X). Deletions are indicated by Δ and insertions by ins. Note that the mutation encoding C73R is the most common lesion found in ~30–35% of reported patients [10].