Molecular Vision: Reis, Mol Vis 2016; 22:1229-1238. Table 2

Table 2. Summary of CYP1B1 variants in POAG cases and age-matched controls.

Case	CYP1B1 mutation^a	Functional prediction^b	Allele frequency^c	#homozygote controls^d	POAG	Age^e	Cup/disc ratio	Family history
Patient 8	c.1064_1076del p.(Arg355Hisfs*69)	Premature truncation	NP	0	Yes	47 years	0.6/0.7	None
Patient 9	c.241T>A p.(Tyr81Asn)	Damaging by 4/5 (S, PP, MT, MA)	159/22812	1 Eu, 2 SA, 1 Fn	Yes	41 years	0.4/0.6	None
Patient 10	c.1328C>G p.(Arg443Gly)	Benign by 5/5	86/66736	14 Af	Yes	63 years	0.85/ 0.875	Unknown
Patient 11	c.35C>T (p.Pro12Leu)	Benign by 5/5	4/62318	1 Af	Yes	51 years	0.4/0.75	Positive, details unknown
Control 1	c.1103G>A (p.Arg368His)	Damaging by 4/5 (S, PP, MT, MA)	184/63292	9 SA, 1 Eu	No	57 years	-	-
Control 2	c.1103G>A (p.Arg368His)	Damaging by 4/5 (S, PP, MT, MA)	184/63292	9 SA, 1 Eu	No	60 years	-	-
Control 3	c.1405C>T (p.Arg469Trp)	Damaging by 4/5 (S, PP, MT, MA)	5/66734	0	No	71 years	-	-

POAG: Primary open angle glaucoma; NP=Not Present; hom- homozygotes; ^a Nucleotide numbering is relative to reference sequence NM_000104.3 where +1 is the A of the ATG initiation codon ^b Five prediction algorithms (SIFT (S), PolyPhen2 (PP), MutationTaster (MT), MutationAssessor (MA), FATHMM (F)) from dbNSFP 2.9 were accessed through SNP & Variation Suite (Golden Helix, Bozeman, MT) ^c Allele frequency for Caucasian populations in ExAC (Exome Aggregation Consortium; EXAC) ^d Number of homozygotes present in ExAC is noted; Af: African, Eu: European, Fn: Finnish, SA: South Asian ^e Age at diagnosis (for Patients 8-11) or at last normal eye exam (for Controls 1-3)