Summary of the very likely and possible pathogenic mutations identified in 100 Japanese arRP patients.

aEYS contains a signal peptide, a putative coiled-coil, 29 EGF, and 5 laminin G domains. See Fig. 3.
bhu/o/m/ho/d/op/p/c/z/dr denotes Human/Orangutan/Marmoset/Horse/Dog/Opossum/Platypus/Chicken/Zebrafish/Drosophila EYS orthologs, respectively. The hyphen (-) indicates that genomic sequence of corresponding region in the species was reported to be unknown [5].
cSIFT, PolyPhen2 (only the HumDiv data are shown), PMut, and SNAP were used as reference data to evaluate the pathogenicity of the missense mutations. c.77G>A, c.2923T>C, c.7793G>A, c.8351T>G, and c.9272T>C were predicted to be pathogenic by a number of different computational prediction programs. In addition, the c.6557G>A mutation, which had been previously reported as disease causing, was classified as pathogenic by the PolyPhen2, PMut, and SNAP programs.
dHomozygous exon 32 deletion mutation was not detected in 200 controls.