CNGA3 and achromatopsia: Topological and structural modeling studies revealed that two missense mutations (c.1306C>T; p.R436W, c.1540G>A; p.D514N) in CNGA3 reported in Pakistani patients with ACHM lead to the production of mutant proteins with abnormal structure affecting the C-linker and cyclic guanosine monophosphate-binding sites, respectively [201].