Mutation spectrum of the <i>EYS</i> gene in Japanese families.

Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence FM209056, according to the nomenclature recommended by the Human Genome Variation Society (www.hgvs.org/mutnomen). The initiation codon is codon 1. None of these 13 mutations were found in the Japanese controls. aEYS has a signal peptide, a putative coiled-coil, 29 EGF, and 5 Laminin G domains. See Fig. 3. bSegregation analysis has been performed. See Fig. 2. In RP56K and RP81K, 2 pathogenic alleles were considered to be on different chromosomes (compound heterozygous). See Fig. 2.