GUCY2Dmut cDNA encodes a mutant guanylate cyclase 2D with two substitutions: 837 D>E, 838 R>S (modified sequence from human genome, NM_000180.3, 3641 pb). This enzyme is guanylate cyclase 2D with dominant negative substitution D837E and R838S. These mutations have been associated in humans with cone dystrophies.
Examples of Applications
- Use in vitro or in vivo to study cone dystrophy