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.aEYS包含信号肽、推定卷曲螺旋结构域、29个表皮生长因子（EGF）结构域以及5个层粘连蛋白G（laminin G）结构域。详见图3。 缩写bhu、o、m、ho、d、op、p、c、z、dr分别对应人类（Human）、红毛猩猩（Orangutan）、狨猴（Marmoset）、马（Horse）、犬（Dog）、负鼠（Opossum）、鸭嘴兽（Platypus）、鸡（Chicken）、斑马鱼（Zebrafish）以及果蝇（Drosophila）的EYS直系同源基因。短横线（-）表示该物种对应区域的基因组序列据报道尚未明确[5]。 本研究采用cSIFT、PolyPhen2（仅展示HumDiv数据集的结果）、PMut及SNAP作为参考工具，用于评估错义突变的致病性。c.77G>A、c.2923T>C、c.7793G>A、c.8351T>G及c.9272T>C被多款不同的计算预测程序判定为致病性突变。此外，此前已有报道称c.6557G>A突变可致病，该突变经PolyPhen2、PMut及SNAP程序判定为致病性突变。 在200例对照样本中未检测到纯合外显子32缺失突变。