Table 2.
CYP1B1 Variations Not Associated with PCG in Iranian Patients
| Gene location | cDNA location* | Exon | Effect on protein | Nature of amino acid change† | Number of patients
|
Total no. alleles | Minor allele frequency | Reference SNP number‡ | |
|---|---|---|---|---|---|---|---|---|---|
| Hom | Het | ||||||||
| g.3318 insC | 5′NC.-487insC | 2 | 50 | 0 | 100 | 0% | |||
| g.3793 T>C | IVS I.-13T>C | 2 | 17 | 21 | 55 | 27.0% | rs4987134 | ||
| g.3947 C>G | c.142C>G | 2 | p.R48G | NC | 17 | 21 | 55 | 27.0% | rs1001 |
| g.4131 A>G§ | c.326A>G§ | 2 | p.Q109R§ | C | 1 | 0 | 2 | 1.0% | |
| g.4160 G>T | c.355G>T | 2 | p.A119S | C | 17 | 21 | 55 | 27.0% | rs1056827 |
| g.4612 C>T§¶ | c.807C>T§¶ | 2 | p.S269S§¶ | S | 0 | 1 | 1 | 0.5% | |
| g.8032 A>G§ | c.1195A>G§ | 3 | p.I399V§ | C | 1 | 0 | 2 | 1.0% | |
| g.8131 G>C | c.1294G>C | 3 | p.V432L | C | 39 | 25 | 103 | 49.5% | rs1056836 |
| g.8184 T>C | c.1347T>C | 3 | p.D449D | S | 39 | 25 | 103 | 49.5% | rs1056837 |
| g.8195 A>G | c.1358A>G | 3 | p.N453S | C | 8 | 10 | 26 | 12.5% | rs1800440 |
*
A of the initiation codon was designated +1.
†
Based on biochemical properties of size and charge.
‡
From build 125 of the SNP database at the National Center for Biotechnology Information.
§
Novel variation.
¶
This variation was found in a control individual.
Hom, homozygous; Het, heterozygous; NC, nonconservative; C, conservative; S, synonymous.