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

Mukhopadhyay, Mol Vis 2005; 11:792-797 <http://www.molvis.org/molvis/v11/a94/>
©2005 Molecular Vision <http://www.molvis.org/molvis/>
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