Table 1 of
Weisschuh, Mol Vis 2005;
11:284-287.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
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