Figure 6. TULP1 gene, protein structure, and pathologic variants identified in patients with LCA and arRP. A: Gene organization and distribution of splice site variants (above the gene) and nonsense and frame-shift variants (below the gene). B: Protein domain structure of tubby-like protein 1 (TULP1) showing missense changes and a two-amino-acid duplication in the tubby, C-terminal domain. The novel missense variant is indicated in bold.