TABLE 1.

CYP1B1 MUTATIONS FOUND IN 250 INDIVIDUALS WITHOUT CLINICAL EVIDENCE OF GLAUCOMA OR A FAMILY HISTORY OF CONGENITAL GLAUCOMA^*

VARIANT POSITION (CHR2)	RS ID	MUTATION	N	FUNCTION	PROTEIN	POLYPHEN-2 SCORE	REFERENCE
38302381	Unknown	c.151C>T	1	Missense	P51S	1.0	This study
38302291	rs9282671	c.241T>A	1	Missense	Y81N	1.0	40
38302180	Unknown	c.352C>T	1	Missense	P118S†	1.0	This study
38301879	rs72549383	c.653A>T	1	Missense	D218V	0.892	This study
38301847	rs57865060	c.685G>A	2	Missense	E229K	0.781	22,41
38298394	rs28936414	c.1103G>A	4	Missense	R368H	1.0	42,43
38398169	rs4986888	c.1328C>G	1	Missense	A443G	0.04	44,45,46
Total			11

^*For each mutation, the table lists the genomic location (variant position on chromosome 2), the rs ID if known, the number of times the mutation is observed (N), the functional consequence of the mutation, the protein location of the mutation, the PolyPhen-2 score, and reference(s) if previously reported. The mutation is indicated as the basepair change in the cDNA (“complementary” DNA, which is the DNA copy of the messenger RNA). For example, c.151C>T is a mutation that causes the C at cDNA position 151 to be replaced with a T. The mutation effect on the protein is indicated using the single letter code for amino acids and the protein position. For example, P51S indicates that the mutation has caused a change in the amino acid at position 51 from the wild type Proline to the mutant Serine.

^†P118T has been previously reported in an ethnically mixed white population.⁴⁷