Table 1 of
Mukhopadhyay, Mol Vis 2005;
11:792-797.
Table 1. Nucleotide changes in the OPTN gene in Indian POAG patients
Nucleotide changes in the OPTN gene in Indian POAG patients are essentially nonpathogenic. In the "Restriction site (+/-)" column, the sign indicates the creation or abolition of a restriction site for HpyCh4IV (HpyCh4IV), StuI (StuI), AciI (AciI), or MnlI (MnlI). The terms "wt" and "mt" indicate the wild type allele and the mutant allele, respectively. The asterisks indicate that these intronic and synonymous variants were screened in 100 normal controls. Observed genotypes were scored to estimate the potential association of specific nucleotide variants with the phenotypes (i.e., POAG or normal). While no significant variation was observed for any SNP, the reported mutation (Arg545Gln) was detected only in six heterozygous patients, but not in the controls.
Observed genotypes (wt,wt/wt,mt/mt,mt) Nucleotide Position Restriction Amino acid ----------------------- change in gene Mutation/SNP site (+/-) change Patients Controls ------------ -------- --------------- ------------ ---------- ---------- ---------- c.428 G>A Exon 4 SNP (rs2234968) HpyCh4IV (-) Thr34Thr 134/61/ 5 106/83/11 c.619 T>A Exon 5 SNP StuI (+) Met98Lys 178/22/ 0 189/11/ 0 c.879-10 G>A Intron 6 SNP 197/ 3/ 0 100/ 0/ 0* c.879-5 C>T Intron 6 SNP (rs2244380) 12/55/133 6/28/66* c.1960 G>A Exon 16 Mutation AciI (-) Arg545Gln 194/ 6/ 0 200/ 0/ 0 c.773 G>A Exon 6 Novel SNP Arg149Arg 99/ 0/ 1 99/ 1/ 0* c.1054 C>A Exon 10 Novel SNP MnlI (-) Asn303Lys 199/ 1/ 0 194/ 6/ 0 |