Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Figure 2

In silico analysis of the novel p.His184Arg variant in PCARE. (a) Close up of the predicted protein structure of PCARE, the p.His184 residue is located in a predicted helical coiled coil domain. (generated on ConSurf) (b) Protein sequence alignment of PCARE orthologs among different species; the red mark delimitates the p.His184 residue. (generated on Jalview) (c) Sanger sequencing chromatogram showing the c.551A > G (p.His184Arg) variant in the genomic DNA of one heterozygous patient.