Table 2 of Reis, Mol Vis 2016; 22:1229-1238.
Case | CYP1B1 mutationa | Functional predictionb | Allele frequencyc | #homozygote controlsd | POAG | Agee | 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 | - | - |