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. 2019 Mar 19;15(3):e1007873. doi: 10.1371/journal.pgen.1007873

Fig 2. Loss-of-function mutation in the canine ABCA4 gene.

Fig 2

(A) Sanger sequencing traces spanning positions Chr6:55,146,545–55,146,564 (CanFam3.1) in exon 28 of the ABCA4 gene of a wild-type, unaffected (ABCA4+/+) dog, a heterozygous (ABCA4+/-) dog, and a homozygous (ABCA4-/-) affected dog. (B) Predicted domain structure of canine full-length ABCA4 protein, based on the proposed human structure [28], and the putative truncated product as a result of the premature stop codon at amino acid residue 1,395. The inferred canine exon numbers are indicated. (C) Schematic representation of the region where the insertion of cytosine (C) is found showing the nucleotide and amino acid sequences of a full-length (top) and truncated (bottom) protein. (D) Predicted topological organization of ABCA4 [29, 30] with the insertion leading to a premature stop codon marked with an arrow. ECD1 = first extracellular domain; TMD1 = first membrane-spanning region; NBD1 = first nucleotide-binding domain; ECD2 = second extracellular domain; TMD2 = second membrane-spanning region; NBD2 = second nucleotide-binding domain.