Table 1.
CYP1B1 Mutations 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 | Percent of PCG causing chromosomes§ | Percent of mutated CYP1B1 alleles | |
|---|---|---|---|---|---|---|---|---|---|
| Hom | Het | ||||||||
| g.3987G>A | c.182G>A | 2 | p.G61E | NC | 15 | 15 | 45 | 21.6% | 32.4% |
| g.3988delA¶ | c.183delA¶ | 2 | p.G61fs¶ | 1 | 0 | 2 | 1.0% | 1.4% | |
| g.4048C>A¶ | c.243C>A¶ | 2 | p.Y81X¶ | 1 | 0 | 2 | 1.0% | 1.4% | |
| g.4322G>A | c.517G>A | 2 | p.E173K | NC | 2 | 0 | 4 | 1.9% | 2.9% |
| g.4410C>A¶ | c.620C>A¶ | 2 | p.A202D¶ | NC | 0 | 1 | 1 | 0.5% | 0.7% |
| g.4490G>A | c.685G>A | 2 | E229K | NC | 1 | 1 | 3 | 1.4% | 2.2% |
| g.4611_4619 dupGCAACTTCA¶ | c.806–814 dupGCAACTTCA¶ | 2 | p.N265_R266 insSNL¶ | 1 | 0 | 2 | 1.0% | 1.4% | |
| g.4673_4674insC | c.862insC | 2 | p.R290fs | 2 | 0 | 4 | 1.9% | 2.9% | |
| g.4677A>G¶ | c.872A>G¶ | 2 | p.D291G¶ | NC | 1 | 0 | 2 | 1.0% | 1.4% |
| g.4791G>T¶ | c.986G>T¶ | 2 | p.G329V¶ | NC | 0 | 2 | 2 | 1.0% | 1.4% |
| g.7934delG¶ | c.1097delG¶ | 3 | p.R366fs¶ | 1 | 0 | 2 | 1.0% | 1.4% | |
| g.7939C>T¶ | c. 1102C>T¶ | 3 | p.R368C¶ | NC | 1 | 1 | 3 | 1.4% | 2.2% |
| g.7940G>A | c. 1103G>A | 3 | p.R368H | NC | 2 | 9 | 13 | 6.3% | 9.4% |
| g.8006G>A | c. 1169G>A | 3 | p.R390H | NC | 12 | 8 | 32 | 15.4% | 23.0% |
| g.8037_8046 dupTCATGCCACC | c.1200_1209 dupTCATGCCACC | 3 | p.T404fs | 1 | 1 | 3 | 1.4% | 2.2% | |
| g.8162C>G | c.1325C>G | 3 | p.P442R | NC | 0 | 1 | 1 | 0.5% | 0.7% |
| g.8242C>T | c.1405C>T | 3 | p.R469W | NC | 7 | 2 | 16 | 7.7% | 11.5% |
| g.8341delA¶ | c.1504 del A¶ | 3 | p.M503fs¶ | 0 | 1 | 1 | 0.5% | 0.7% | |
| g.8354_8373del GTTATGGTCT-AACCATTAAA¶ | c.1517_1536 delGTTATGGT-CTAACCATTAAA¶ | 3 | p.S506fs¶ | 1 | 0 | 2 | 1.0% | 1.4% | |
| 67.5% | ∼100% | ||||||||
*
The four most common mutations are shown in bold. Reference sequences used were NT_022184.14, NM_000104.2, and NP_000095.1.
†
A of the initiation codon was designated +1.
‡
Based on biochemical properties of size and charge.
§
Assuming autosomal recessive status of disease in all patients.
¶
Novel mutation.
Hom, homozygous; Het, heterozygous; fs, frameshift: NC, nonconservative.