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. 2019 Apr 18;137(6):669–679. doi: 10.1001/jamaophthalmol.2018.6367

Figure 1. All Novel Mutations in PDE6A and PDE6B Identified in This Study.

Figure 1.

The genomic sequence of PDE6A (A) and PDE6B (B) is presented above with protein domains below. Catalytic domains cyclic guanosine monophosphate–specific phosphodiesterases, adenylyl cyclases, and formate hydrogenlyase transcriptional activator FhlA; GAF1 and GAF2 are indicated. Nucleotide numbering is based on complementary DNA sequence of PDE6A refseq NM_000440.2 and NM_000283.3 for PDE6B where A of the ATG initiation codon is 1.