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Table 3 Mutations detected in CYP1B1 in PCG patients from Saudi Arabia

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
  1. [5]-[7],[10]-[19] *Substitutions with a SIFT score <0.05 are predicted to be deleterious, **Polyphen scores near 1 are confidently predicted to be pathogenic. N/A = Not Applicable.