Table 1.
31 genes designated by CPIC as A or B level genes, along with factors to consider when designing MAVEs.
| Gene | Drug(s) | Length (AA) | Total possible single AA variants | Missense variants in gnomAD | Missense variants in PharmVar | Localization |
|---|---|---|---|---|---|---|
| MT-RNR1 | aminoglycoside antibacterials | 16 | 300 | 0 | 0 | Secreted |
| NUDT15 | azathioprine, mercaptopurine, thioguanine | 164 | 3,260 | 83 | 12 | Cytoplasm |
| IFNL3 | peginterferon alfa-2a, peginterferon alfa-2b, ribavirin | 196 | 3,900 | 152 | 0 | Secreted |
| HPRT1 | mycophenolic acid | 218 | 4,340 | 20 | 0 | Cytoplasm |
| TPMT | azathioprine, mercaptopurine, thioguanine | 245 | 4,880 | 119 | 0 | Cytoplasm |
| OTC | valproic acid | 354 | 7,060 | 88 | 0 | Mitochondrion matrix |
| HLA-B | abacavir, allopurinol, carbamazepine, oxcarbazepine | 362 | 7,220 | 180 | 0 | Membrane; Single-pass type I membrane protein |
| HLA-A | carbamazepine, allopurinol | 365 | 7,280 | 194 | 0 | Membrane; Single-pass type I membrane protein |
| ASS1 | valproic acid | 412 | 8,220 | 211 | 0 | Cytoplasm |
| ASL | valproic acid | 464 | 9,260 | 242 | 0 | Cytoplasm, extracellular exosome |
| CYP2C9 | phenytoin, warfarin, acenocoumarol | 490 | 9,780 | 381 | 55 | Endoplasmic reticulum membrane, peripheral membrane |
| CYP2C19 | amitriptyline, clopidogrel, citalopram, voriconazole | 490 | 9,780 | 375 | 5 | Endoplasmic reticulum membrane, peripheral membrane |
| CYP2B6 | efavirenz, methadone | 491 | 9,800 | 331 | 0 | Endoplasmic reticulum membrane, peripheral membrane |
| CYP2D6 | codeine, oxycodone, tamoxifen, tramadol | 497 | 9,920 | 374 | 30 | Endoplasmic reticulum membrane, peripheral membrane |
| CYP3A5 | tacrolimus | 502 | 10,020 | 215 | 11 | Endoplasmic reticulum membrane, peripheral membrane |
| G6PD | rasburicase, chloramphenicol, chloroquine, ciprofloxacin | 515 | 10,280 | 171 | 0 | Cytoplasm, extracellular exosome, nucleus |
| CYP4F2 | warfarin, acenocoumarol | 520 | 10,380 | 344 | 2 | Endoplasmic reticulum membrane, peripheral membrane |
| UGT1A1 | atazanavir, irinotecan, belinostat | 533 | 10,640 | 308 | 0 | Endoplasmic reticulum membrane; Single-pass membrane protein |
| NAGS | carglumic acid | 534 | 10,660 | 216 | 0 | Mitochondrion matrix |
| GBA | velaglucerase alfa | 536 | 10,700 | 247 | 0 | Lysosome membrane, peripheral membrane protein |
| SLCO1B1 | simvastatin, cerivastatin | 691 | 13,800 | 399 | 0 | Basolateral cell membrane, Multi-pass membrane protein |
| DPYD | capecitabine, fluorouracil | 1,025 | 20,480 | 566 | 0 | Cytoplasm |
| ABL2 | valproic acid | 1,182 | 23,620 | 509 | 0 | Cytoplasm, cytoskeleton |
| POLG | valproic acid | 1,239 | 24,760 | 762 | 0 | Mitochondrion, mitochondrion matrix, mitochondrion nucleoid |
| ABCB1 | antidepressants, digoxin | 1,280 | 25,580 | 578 | 0 | Cell membrane, multi-pass membrane protein |
| CFTR | ivacaftor | 1,480 | 29,580 | 991 | 0 | Apical cell membrane |
| CPS1 | valproic acid | 1,500 | 29,980 | 679 | 0 | Mitochondrion, nucleus, nucleolus |
| CACNA1S | desflurane, enflurane, isoflurane, halothane | 1,873 | 37,440 | 1,071 | 0 | Cell membrane, sarcolemma, T-tubule, multi-pass membrane protein |
| SCN1A | carbamazepine | 2,009 | 40,160 | 587 | 0 | Cell membrane, multi-pass membrane protein |
| RYR1 | desflurane, enflurane, isoflurane, halothane | 5,038 | 100,740 | 2,663 | 0 | Sarcoplasmic reticulum membrane, multi-pass membrane protein |