Table 2

CYP1B1 mutations in patients with congenital glaucoma from multiple populations

Mutation	Location in molecule	Origin	Identified in this study	Other studies that identified mutation
Trp57Stop	Exon 2, hinge region	Brazil		16
	Exon 2, hinge region	Canada		17
Gly61Glu	Exon 2, hinge region	Morocco		18
	Exon 2, hinge region	Turkey		8
		Saudi Arabia		19
		Indian		20
Arg368His	Exon 3, J helix	Saudi Arabia		21
	Exon 3, J helix	Brazil		16
		Indian		20
Glu387Lys	Exon 3, K helix	Slovakian gypsies		11
		Canadian		8, 21
		Brazil		16
		USA	Yes	8
Pro437Leu	Exon 3, meander	Brazil		16
	Exon 3, meander	Turkey		8
Ala443Gly	Exon 3, meander	Germany		22
	Exon 3, meander	Brazil		16
Arg469Trp	Exon 3, heme binding	Saudi Arabia		5
	Exon 3, heme binding	British		8
		Turkish		8
268delSNF	Exon 2	Saudi Arabia		19
		USA	Yes
4339/4340delG	Exon 2	Brazil		16
4339/4340delG	Exon 2	Morocco		18
8037_8046dupTCATGCCACC	Exon 3, frameshift	Germany		22, 23
		Brazil		16
		USA	Yes	8
		British		8
		Turkey		8
8182delG	Exon 3, frameshift	Brazil	Yes	16
	Exon 3, frameshift	USA		8