Table 2 of
Rashid, Mol Vis 2019; 25:144-154. Table 2 of
Rashid, Mol Vis 2019; 25:144-154.
Table 2. CYP1B1 alleles identified in this study.
| Family | Nucleotide change | Amino acid change | CADD | SIFT | Polyphen2 | MutationTaster | Mutation Assessor | Fathmm | gnomAD | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| PKED01 | c.542T>A | p.(Leu181Gln) | 23.6 | Damaging | Probably damaging | Disease causing | Medium | Tolerated | 0 | This study |
| PKED05 | c.1436 A>G | p.(Gln479Arg) | 11 | Damaging | Probably damaging | Disease causing | Medium | 0 | This study | |
| LUPCG01, GCUF14 | c.1325delC | p.(Pro442Glufs*15) | - | NA | NA | NA | NA | NA | 4.06E-06 | This study |
| LUCC20, LUPCG04, LUPCG16, GCFGL01, GCUF10, GCUF23 | c.1169G>A | p.(Arg390His) | 35 | Damaging | Probably damaging | Disease causing | High | Damaging | 0.000102 | [27] |
| LUPCG10 | c.1310C>T | p.(Pro437Leu) | 33 | Damaging | Probably damaging | Disease causing | High | Damaging | 2.16E-05 | [27] |
| GCFGL02 | c.868dupC | p.(Arg290Profs*37) | 34 | NA | NA | NA | NA | NA | 2.31E-05 | [28] |
| GCUF19 | c.1209InsTCATGCCACC | p.(Thr404Serfs*30) | 25.5 | NA | NA | NA | NA | NA | 0.000199 | [29] |
| GCUF22 | c.1168C>T | p.(Arg390Cys) | 34 | Damaging | Probably damaging | Disease causing | NA | Damaging | 3.63E-05 | [30] |