Table 1 of
Li, Mol Vis 2007;
13:804-812.Table 1 of
Li, Mol Vis 2007;
13:804-812.
Table 1. Identification of X linked juvenile retinoschisis 1 mutations in the X-linked juvenile retinoschisis pedigrees
Summarized are the DNA outcome of RS1 mutations in Chinese X linked juvenile retinoschisis pedigrees. The following abbreviations were used: Ser is serine (Ser), Pro is proline (Pro), Arg is arginine (Arg), Gln is glutamine (Gln), Asp is aspartic acid (Asp), His is histidine (His), Gly is glycine (Gly), Trp is tryptophane (Trp), Cys is cysteine (Cys), and NSP is non-disease-related polymorphisms (NSP). The asterisk (*) indicates new mutation.
Pedigree Exon Mutation Predicted amino acid change Predicted effect -------- ---- --------- --------------------------- ----------------- 90 1 26delT frameshifting deletion frameshift* 330 IVS1 52+2>T-C Del splice donor site 280 4 217T>C Ser73Pro missense 310 4 305G>A Arg102Gln missense 60 5 433G>C Asp145His * missense 380 5 466G>A Arg156Gly * missense 190 5 488delG frameshifting deletion frameshift* 140 6 576C>T Pro192Pro* NSP 140 6 598C>T Arg200Cys missense 20 6 626G>A Arg209His missense 240 6 638G>A Arg213Gln missense 210 6 638G>A Arg213Gln missense 350 6 667T>C Cys223Arg missense |