Summary of nsSNPs of human CYP genes with known phenotypes
Also see Supplemental Table 1.
Gene Symbol | nsSNP Number | Phenotype |
|---|---|---|
| CYP21A2 | 61 | CAH; hyperandrogenism |
| CYP17A1 | 29 | AH5; loss of 17α-hydroxylase activity and 17,20-lyase activity |
| CYP27B1 | 18 | VDDR I; loss of activity |
| CYP2A6 | 14 | Poor metabolism; decreased activity |
| CYP2C9 | 14 | Poor tolbutamide metabolizer; decreased activity; increases the Km value for substrates tested |
| CYP2B6 | 13 | Decreased expression/activity; increased activity |
| CYP1B1 | 11 | GLC3A; Peters anomaly (a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs) |
| CYP11B1 | 10 | Steroid 11β-hydroxylase deficiency |
| CYP27A1 | 9 | CTX |
| CYP2D6 | 9 | Poor metabolism; decreased activity |
| CYP11B2 | 8 | CMO- I and CMO-II deficiency; loss of activity |
| CYP2C19 | 8 | Poor metabolism; decreased activity |
| CYP3A4 | 8 | Decreased activity; lower turnover for testosterone, chlorpyrifos, and nifedipine |
| CYP3A5 | 8 | Decreased activity |
| CYP4V2 | 8 | BCD |
| CYP1A2 | 7 | Decreased activity and expression |
| CYP19A1 | 6 | Aromatase deficiency |
| CYP2C8 | 4 | Decreased paclitaxel turnover; increased Km for paclitaxel 6α-hydroxylation |
| CYP2J2 | 4 | Reduced metabolism of arachidonic acid or linoleic acid |
| CYP11A1 | 3 | Congenital lipoid adrenal hyperplasia; loss of activity |
| CYP26A1 | 2 | CAH |
| CYP2E1 | 1 | Reduced activity |
| CYP2R1 | 1 | 25-Hydroxyvitamin D3 deficiency; complete loss of activity |
| CYP3A7 | 1 | Increased activity |
| CYP4A11 | 1 | Hypertension; decreased activity |
| Total | 259 |
|
AH5, adrenal hyperplasia type 5; BCD, Bietti crystalline corneoretinal dystrophy; CTX, cerebrotendinous xanthomatosis; CAH, congenital adrenal hyperplasia; CMO, corticosterone methyloxidase; GLC3A, primary congenital glaucoma type 3A; VDDR-I, vitamin D-dependent rickets type I.