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. Author manuscript; available in PMC: 2014 Mar 5.
Published in final edited form as: Hum Mutat. 2011 Sep 23;32(12):1450–1459. doi: 10.1002/humu.21587

Figure 3.

Figure 3

A missense mutation is identified in CNGA3. A: Exon–intron structure of CNGA3. Exons are shown as black boxes. The nonsense mutation p.L527M is located in the eighth exon (red arrow). B: Sequence traces of control and affected members. A homozygous missense mutation in c.1579 is identified in affected member KKESH2#4 (blue arrow). C: Schematic view of the CNGA3 protein structure. The p.L527M mutation is located within the intracellular cGMP-binding site. D: Amino acid alignment among 11 vertebrate species. The mutated leucine is located within this region and is conserved across all species.