Table 1 of
Weisschuh, Mol Vis 2005;
11:284-287.
Table 1. MYOC and OPTN sequence changes in patients with NTG
Potentially pathogenic sequence changes are in red. Under the "Genotype" column, the numbers are the counts of homozygotes, heterozygotes, and wildtype. Some mutations were not analyzed (NA).
Genotype -------------------- Sequence Codon NTG Controls Location change change (n=112) (n=100) -------- --------- ------ --------- -------- MYOC: Exon 1 c.227G>A R76K 3/37/ 72 NA Exon 1 c.366C>T G122G 0/ 2/110 NA Exon 1 c.524G>A R168R 0/ 1/111 NA Exon 3 c.1041T>C Y347Y 0/ 8/104 NA Exon 3 c.878C>A T293K 0/ 1/111 NA Exon 3 c.1334C>T A445V 0/ 1/111 NA OPTN: Exon 4 c.412G>A T34T 14/35/ 63 NA Exon 4 c.433G>A L41L 0/ 5/107 NA Exon 5 c.603T>A M98K 0/ 7/105 0/7/ 93 Intron 6 IVS6-5T>C - 4/27/ 81 NA Exon 11 c.1317C>G A336G 0/ 1/111 0/0/100 Exon 11 c.1439G>A A377T 0/ 1/111 0/0/100 |