Table 4. The identified mutations in the TYR gene from OCA1 patients in our study.

Nucleotide change	Amino acid change	Location	Frequency (%)	Status	Reference
c.98A>C	K33T	Exon 1	2(5.4)	Homo (1)*; Hetero (1)	Reported [6]
c.140G>A	G47D	Exon 1	2(5.4)	Homo (2)	Reported [42]
c.265T>A	C89S	Exon 1	1(2.7)	Homo (1)	Not reported (New)
c.575C>A	S192Y	Exon 1	5(13.5)	Homo (1); Hetero (4)	Reported [43]
c.539A>G	H180R	Exon 1	1(2.7)	Hetero (1)	Not reported (New)
c.606T>G	H202Q	Exon 1	3(8.1)	Homo (1); Hetero (2)	Reported [44]
c.649C>T	R217W	Exon 1	2(5.4)	Homo (2)	Reported [45]
c.715C>T	R239W	Exon 1	3(8.1)	Homo (3)	Reported [46]
c.896G>A	R299H	Exon 2	2(5.4)	Homo (2)	Reported [45]
c.996G>A	M332I	Exon 2	1(2.7)	Homo (1)	Reported [47]
c.1037G>A	G346E	Exon 3	3(8.1)	Homo (1); Hetero (2)	Reported [48]
c.1205G>A	R402Q	Exon 4	6(16.2)	Hetero (6)	Reported [24]
c.1217C>T	P406L	Exon 4	4(10.8)	Homo (2); Hetero (2)	Reported [49]
c.1255G>A	G419R	Exon 4	2(5.4)	Homo (2)	Reported [16]

*The number in parenthesis in the status column shows the number of patients; New mutations are in bold.