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. 2020 Mar 6;8:128. doi: 10.3389/fcell.2020.00128

FIGURE 1.

FIGURE 1

Identification of the PDE6B mutation in the RP patient. (A) The pedigree of the family. (B) Optical coherence tomography (OCT) of the RP patient and a healthy control. (C) Sequencing results of the RP patient and control. A single nucleotide mutation was found in the RP patient compared with the control and is indicated with red arrows. (D) Predicted crystal structures of the wild-type and mutant PDE6B. Amino acid 232 is indicated in red and yellow. (E) The domain organization of human PDE6B. The PDE6B c.694G > A mutation is located in the intervening sequence of two GAF domains arranged in tandem. (F) Multiple sequence alignment of PDE6B of the indicated species showing conserved amino acid residues at the mutation site which are indicated with a red arrow.