Table 2. List of new unlisted CYP1B1 mutations .
| Population | Location | genomic DNA | Amino acid change scheduled change | Type of mutation | N | Homozygote | Heterozygote |
|---|---|---|---|---|---|---|---|
| Vietnamese | Exon 2 | c.836A > T | p.His279Leu | NM | 1 | + | |
| Vietnamese | Exon 2 | c.847C > T | p.Leu283Phe | NM | 1 | + | |
| Lebanese | NM | 1793delC | p.Ser464 | Frameshift | 1 | + | |
| Iranian | NM | NM | p.Tyr81 | NM | 1 | + | |
| Iranian | NM | NM | p.Arg390His | NM | 2 | + | |
| Iranian-Saudi | Exon 2 | c.685G > A | p.Glu229Lys | Missense | 1 1 |
+ | + |
| Iranian | NM | NM | p.Pro289 fs | NM | 1 | + | |
| Iranian | NM | NM | p.Gly329Val | NM | 1 | + | |
| Iranian | NM | NM | p.Arg368Cys | NM | 1 | + | |
| Spanish | NM | NM | p.Thr404 fs X38 | NM | NM | NM | |
| Moroccan | NM | g.4339delG | NM | Frameshift | + | ||
| Moroccan | NM | g.4330–4331delTG | NM | Frameshift | NM | + | |
| Moroccan | NM | g.79016–7913del13bp | NM | Frameshift | NM | + | |
| Indian-Brazilian | NM | 8263T > C | p.Ser476Pro | NM | 1 1 |
NM | |
| Indian-Brazilian | NM | 8214_8215delAG | p.Val460 fs | NM | 2 3 |
NM | |
| Indian | NM | g.3925delG | p.Arg41 fs | NM | NM | NM | |
| Indian | NM | g.3972C > T | p.Ala56Val | NM | NM | NM | |
| Indian | NM | g.4055 G > T | p.Val84Phe | NM | NM | NM | |
| Indian | NM | g.4095T > C | p.Leu97Pro | NM | NM | NM | |
| Indian | NM | g.4197C > G | p.Ser131Arg | NM | NM | NM | |
| Indian | NM | g.4347T > C | p.Leu181Pro | NM | NM | NM | |
| Indian | NM | g.4421_4423del | p.205delS | NM | NM | NM | |
| Indian | NM | g.4641A > C | p.His279Pro | NM | NM | NM | |
| Indian | NM | g.4793G > A | p.Ala330Thr | NM | NM | NM | |
| Indian | NM | g.7917G > A | p.Leu360L | NM | NM | NM | |
| Indian | NM | g.7949G > T | p.Cys371Phe | NM | NM | NM | |
| Indian | NM | g.8148del5bp | p.Pro437 fs | NM | NM | NM | |
| Indian | NM | g.8162C > T | p.Pro442Leu | NM | NM | NM | |
| Indian | NM | g.8227T > C | p.Ser464Pro | NM | NM | NM | |
| Indian | NM | g.8393A > G | p.Asn519Ser | NM | NM | NM | |
| Brazilian | NM | g.4523delC | p.Leu240 fs | NM | NM | NM | |
| Portuguese-United States | Exon 2 | c.317C > A | p.Ala106Asp | Missense | NM | + ch |
|
| Portuguese | Exon 3 | c.1390dupT | p.Ser464 fs | Frameshift | NM | + | |
| Pakistani | NM | NM | p.Gly36Asp | Missense | 4 | + | |
| Pakistani | NM | NM | p.Gly67-Ala70del | Frameshift | 2 | + | |
| Chinese | NM | g.T3836C | p.Trp11Arg | Missense | NM | + ch | |
| Chinese | NM | g.4022delTC | p.73, stop at p.221 | Frameshift | NM | ch | |
| Chinese | NM | g.G4151T | p.Asp116Tyr | Missense | NM | + ch | |
| Chinese | NM | g.T4338A | p.Val178Glu | Missense | NM | + ch | |
| Chinese | NM | g.G4493A | p.Glu230Lys | Missense | NM | + ch | |
| Chinese | NM | g.T4509C | p.Val235Ala | Missense | NM | + | |
| Chinese | NM | g.T8137C | p.Trp434Arg | Missense | NM | + | |
| Chinese | NM | g.C8167T | p.Arg444 | Nonsense | NM | + ch | |
| Chinese | NM | g.G4322A | p.Glu173Lys | Missense | NM | + ch | |
| Tunisian | NM | 691T > A | p.Phe231Ile | NM | 1 | + | |
| Tunisian | NM | c.1309C > G | p.Pro437Ala | NM | 1 | + | |
| European | Exon 1 | c.337G > T | NM | NM | NM | NM | |
| European | Exon 2 | NM | p.Phe123Leu | NM | NM | + | |
| European | Exon 2 | I399_P400del | NM | NM | NM | ch | |
| European | NM | NM | p.Ala237Glu | NM | NM | NM | |
| United States | NM | c.1063C > T | p.Arg355* | Nonsense | NM | 1+ | |
| United States | NM | c.171G > A | p.Trp57* | Nonsense | NM | + | |
| United States | NM | c.1209_1210insTCATGCCACC | 10-bp insertion | Frameshift | NM | NM | |
| United States | NM | c.1064_1076delGAGTGCAGGCAGA | 13-bp deletion | Frameshift frame | NM | NM | |
| Korean | NM | c.970_971dupAT | p.Thr325Ser fs X104 | NM | NM | + | |
| Korean | NM | c.985G > A | p.Gly329Ser | NM | NM | + | |
| Korean | NM | c. 1256_1257delTG | p.Val419Gly fs X11 | NM | NM | ch | |
| Saudi | NM | g.4160G > T | p.Ala119Ser | Missense | NM | NM | |
| Saudi | NM | g.8159A > G | p.Asp441Gly | Missense | NM | NM | |
| Saudi | NM | g.8233G > A | p.Gly466Ser | Missense | NM | NM |
Abbreviations: (+), present; ch, compound heterozygous; N, number; NM, not mentioned.