Figure 1.
Loss of the activity in RetGC1 variants coded by GUCY2D LCA alleles in the patients
(A) Western immunoblotting of HEK293 cell membranes expressing RetGC1 variants harboring amino acid substitutions coded by the GUCY2D LCA alleles; probed by anti-RetGC1 antibody.
(B) The guanylyl cyclase activity of RetGC1 (mean average ± SD, from 2 to 4 independent measurements) using different preparations of HEK293 membranes reconstituted with Mg2+ GCAP1; wild type (●), Arg768Trp (▲), Ser981del1bp (◇), Arg995Gln (□), and Phe1054Ile (◯); the activities of RetGC1 in each case were corrected by the levels of their expression relative to wild type.