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Figure 6. Gain-of-function/loss-of-function continuum for cone CNG channel disease-associated mutations and polymorphisms based on current densities at a physiological concentration of cGMP. Plot comparing 5 μM current density ratios for CNGB3 disease associated mutations and CNG channel polymorphisms with wild type A3+B3 channels (star). The plot includes CNGB3 disease-associated mutations described here (open circles) and several CNGB3 disease-associated mutations described previously (Peng et al., 2003b—open triangles; Bright et al., 2005—open squares). Channels with a current-density ratio greater than 1.0 are predicted to generate an elevated photoreceptor dark current compared to wild type A3+B3 channels and thus can be characterized as having a putative gain-of-function phenotype. Conversely, channels with a current-density ratio less than 1.0 are predicted to generate an attenuated photoreceptor dark current compared to wild type channels and can thus be characterized as having a putative loss-of-function phenotype. Image published in: Meighan PC et al. (2015) Copyright © 2015 Meighan, Peng and Varnum. This image is reproduced with permission of the journal and the copyright holder. This is an open-access article distributed under the terms of the Creative Commons Attribution license Larger Image Printer Friendly View

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