Fig. 3
From: Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Topological and molecular structure of ABCA4. A Topological diagram of ABCA4 showing the various domains of ABCA4 and the location of the peptide segment encoded by exon 17. ECD, exocytoplasmic domain; NBD, nucleotide-binding domain; TMD, transmembrane domain; RD, regulatory domain. Hexagons denote oligosaccharide chains extending from the ECDs. EH, external helix; IH, internal helix. The 22 amino acid-segment encoded by exon 17 is depicted as a red box; B Molecular structure of ABCA4 (PDB: 7LKP). Red sticks show the part of the 22 amino acid-segment encoded by exon 17 that could be modeled (Gly-Asp-Tyr-Gly-Thr-Pro-Leu-Pro-Trp-Tyr-Phe). Right: Enlarged region of ABCA4 containing the segment encoded by exon 17. Dashed line represents the remaining peptide encoded by exons 17 and 18. This segment could not be modeled in any of the ABCA4 structures, presumably due to the flexible nature of this segment of the protein. N-half and C-half are colored blue and orange, respectively