Table 1 of
Sripriya, Mol Vis 2006;
12:816-820.Table 1 of
Sripriya, Mol Vis 2006;
12:816-820.
Table 1.
OPTN sequence alterations in Indian primary open angle glaucoma (POAG) patients. The table shows the distribution of OPTN nucleotide changes in the OPTN gene in 100 POAG patients and controls. "Genotype frequency" is represented as mutant homozygotes/heterozygotes/wildtype homozygotes. The asterisk indicates a p=0.013 by Fisher's exact test.
Genotype frequency
Sequence Codon -------------------
Location change change POAG Control
--------- ----------- ------ ------- ---------
Substitution
Exon 5 c.603T>A M98K 0/ 3/97 0/ 0/100
Synonymous change
Exon 4 c.412G>A T34T 6/11/83 8/15/ 77
Exon 7 c.907T>C P199P 0/ 1/99 0/ 0/100
Noncoding change
Intron 6 IVS6-5T>C - 0/ 9/98 0/12/ 88
Intron 7 IVS7+24G>A - 1/ 6/93 0/ 0/100*
Intron 15 IVS15+10G>A - 0/ 1/99 0/ 0/100
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