Molecular Vision: Yen, Mol Vis 2008; 14:487-494. Table 3

Table 3. Variants of the OPTN gene in this study.

Genotype variants	Amino acid variants	Location	Predicted effect	Reference
c.-284G>A	N	Exon 1	—	This study
c.-105G.>A	N	Exon 2	—	This study
c.102G>A	T34T	Exon 4	synonymous change	[13]
c.293T>A	M98K	Exon 5	missense change	[13]
c.964A>G	K322E	Exon 10	missense change	This study
c.-233+25C>G	N	Intron 1	—	This study
c.166+66A>G	N	Intron 4	—	This study
c.553–5C>T	N	Intron 6	—	[14,31]
c.553–10G>A	N	Intron 6	—	[14]
c.626+24G>A	N	Intron 7	—	[14]
c.708–53T>C	N	Intron 7	—	This study
c.779+20G>A	N	Intron 8	—	[14]
c.882+109A>G	N	Intron 9	—	This study
c.1978+101A>C	N	Intron 15	—	This study
c.1979–48C>A	N	Intron 15	—	[14]

Fifteen variants of OPTN were determined in the 51 JOAG patients and 51 unrelated normal controls. Two were missense variants (M98K and K322E), one was a synonymous codon change (T34T), and 12 were changes in the noncoding sequences. In addition, seven of the variants have been reported that it was indicated in reference position and eight were novel. The “N” indicates that the variant had no change in amino acid. The “dash” indicates that the variant had no determined effect.