From: CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia
Nucleotide change | Amino-acid change | Patient heterozygous | Patient homozygous | Families | PhyloP | Grantham distance | SIFT score* | PolyPhen** | dbSNP |
---|---|---|---|---|---|---|---|---|---|
c.-1-12C > T | N/A | 2 | 1 | N/A | N/A | N/A | N/A | N/A | rs2617266 |
c.142C > G | p.Arg48Gly | 2 | 2 | N/A | −1.25 | 125 | 0.38 | 0.00 | rs10012 |
c.355G > T | p.Ala119Ser | 3 | 3 | N/A | −0.28 | 99 | 0.79 | 0.00 | rs1056827 |
c.729G > C | p.Val243Val | 1 | 0 | N/A | N/A | N/A | N/A | N/A | rs9341249 |
c.1328C > G | p.Ala443Gly | 1 | 0 | N/A | 0.85 | 60 | 0.19 | 0.00 | rs4986888 |
c.1347T > C | p.Asp449Asp | 5 | 3 | 1 | N/A | N/A | N/A | N/A | rs1056837 |
c.182G > A | p.Gly61Glu | 1 | 17 | 4 | 3.34 | 98 | 0.0 | 1.00 | rs28936700 |
c.685G > A | p.Glu229Lys | 1 | 0 | N/A | 3.6 | 56 | 0.03 | 0.99 | Rs57865060 |
c.1405C > T | p.Arg469Trp | 4 | 4 | 3 | 1.09 | 101 | 0.0 | 1.0 | Rs28936701 |