Table 2. List of reported and a previously unreported single nucleotide polymorphism detected in CYP1B1 gene in PCG patients analyzed in this study.
| Family ID | Position | Nucleotide change | Zygosity | Protein change | Mutation taster | Polyphen-2 | SIFT | Provean | dbSNP |
|---|---|---|---|---|---|---|---|---|---|
| PCG047-054, 056, 058, 060–064069, 102 | EXON 3 | c.1347T>C | Homozygous | p. (=) | Polymorphism | N/A | N/A | N/A | rs1056837 |
| PCG049, 055, 057 | EXON 3 | c.1294G>C | Homozygous | p.Val432Leu | Polymorphism | Benign 0.00 | Tolerant 1.00 | N/A | rs1056836 |
| PCG051, 063 | EXON 3 | c.1358A>G | Homozygous | p.Asn453Ser | Polymorphism | Possibly damaging 0.906 | Tolerant 1.00 | Deleterious-3.24 | rs1800400 |
| PCG052, 064, 065, 102 | 3’UTR | c.2244_2245insT | Homozygous | p. (=) | Polymorphism | N/A | N/A | N/A | rs4646431 |
| PCG053, 056, 069 | EXON 2 | c.355G>T | Homozygous | p.Ala119Ser | Polymorphism | Benign 0.00 | Tolerant 1.00 | Neutral 1.51 | rs1056827 |
| PCG056 | EXON 2 | c.142C>G | Homozygous | p.Arg48Gly | Polymorphism | Benign 0.00 | Tolerant 0.82 | Neutral -0.085 | rs10012 |
| PCG062 | Intron | g.35710_35711insT | Homozygous | p. (=) | Polymorphism | N/A | N/A | N/A | Not reported |