Table 4 of
Kim, Mol Vis 2011; 17:2093-2101. Table 4 of
Kim, Mol Vis 2011; 17:2093-2101.
Table 4. Single nucleotide polymorphisms of CYP1B1 identified in Korean probands with PCG.
| Location | Nucleotide change | Amino acid change | Allele frequency (%) | Reference SNP number | |
|---|---|---|---|---|---|
| Intron 1 | 5′UTR-13C>T | NA | C 130/170 (76.5) | T 40/170 (23.5) | rs2617266 |
| Exon 2 | c.142C>G | p.R48G | C 130/170 (76.5) | G 40/170 (23.5) | rs10012 |
| Exon 2 | c.319C>G | p.L107V | C 166/170 (97.6) | G 4/170 (2.4) | rs56339482 |
| Exon 2 | c.355G>T | p.A119S | G 129/170 (75.9) | T 41/170 (24.1) | rs1056827 |
| Exon 2 | c.729G>C | p.V243V | G 165/170 (97.1) | C 5/170 (2.9) | rs9341249 |
| Exon 3 | c.1294G>C | p.V432L | G 23/170 (13.5) | C 147/170 (86.5) | rs1056836 |
| Exon 3 | c.1347T>C | p.D449D | T 27/170 (15.9) | C 143/170 (84.1) | rs1056537 |