COMT
catechol-O-methyltransferase
Pharmacogene
Summary
Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
Known Variants198 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2075507 | 22:19,928,092 | G/A | regulatory region variant | — |
| rs2020917 | 22:19,928,884 | C/T | regulatory region variant | benign |
| rs13306278 | 22:19,929,027 | C/T | regulatory region variant | benign |
| rs1601500636 | 22:19,929,225 | T/G | — | drug response |
| rs1303813995 | 22:19,929,227 | C/T | — | drug response |
| rs1468243199 | 22:19,929,312 | C/T | — | drug response |
| rs1601501100 | 22:19,929,314 | C/T | — | drug response |
| rs1601501107 | 22:19,929,315 | C/T | — | drug response |
| rs774265748 | 22:19,929,330 | C/T | — | drug response |
| rs1601501281 | 22:19,929,350 | T/G | — | drug response |
| rs1213698422 | 22:19,929,353 | G/T | — | drug response |
| rs764956654 | 22:19,929,411 | C/T | — | drug response |
| rs737866 | 22:19,930,109 | T/A | — | — |
| rs737865 | 22:19,930,121 | A/T | — | — |
| rs933271 | 22:19,931,407 | T/A | — | — |
| rs5993882 | 22:19,937,533 | T/G | intron variant | — |
| rs1601511512 | 22:19,938,429 | A/T | — | drug response |
| rs1601511531 | 22:19,938,432 | G/A | — | drug response |
| rs1601511537 | 22:19,938,433 | C/G | — | drug response |
| rs1601511546 | 22:19,938,435 | T/C | — | drug response |
| rs1601512573 | 22:19,939,021 | T/G | — | drug response |
| rs1601512579 | 22:19,939,022 | G/A | — | drug response |
| rs1601512585 | 22:19,939,024 | C/A | — | drug response |
| rs1601512593 | 22:19,939,025 | T/C | — | drug response |
| rs1601512599 | 22:19,939,026 | C/A | — | drug response |
| rs1601512609 | 22:19,939,027 | C/A | — | drug response |
| rs1601512631 | 22:19,939,036 | C/T | — | drug response |
| rs144623972 | 22:19,939,039 | G/A | — | drug response |
| rs1601512664 | 22:19,939,055 | A/T | — | drug response |
| rs1601512790 | 22:19,939,139 | G/C | — | drug response |
| rs1601512807 | 22:19,939,152 | G/A | — | drug response |
| rs188159376 | 22:19,939,230 | C/T | — | drug response |
| rs1601512964 | 22:19,939,267 | G/A | — | drug response |
| rs3087869 | 22:19,941,507 | A/G | regulatory region variant | — |
| rs740603 | 22:19,945,177 | A/G | regulatory region variant | — |
| rs4646312 | 22:19,948,337 | T/C | upstream gene variant | — |
| rs1601525062 | 22:19,948,690 | T/G | — | drug response |
| rs1601525066 | 22:19,948,692 | A/G | — | drug response |
| rs1601525072 | 22:19,948,696 | T/A | — | drug response |
| rs1601525073 | 22:19,948,697 | C/A | — | drug response |
| rs1601525100 | 22:19,948,728 | C/T | — | drug response |
| rs972946462 | 22:19,948,826 | C/T | — | drug response |
| rs1601525317 | 22:19,948,855 | C/A | — | drug response |
| rs165656 | 22:19,948,863 | G/T | — | — |
| rs165722 | 22:19,949,013 | C/T | regulatory region variant | — |
| rs1601526328 | 22:19,949,723 | C/T | — | drug response |
| rs887838460 | 22:19,949,724 | C/A | — | drug response |
| rs1393666377 | 22:19,949,725 | G/A | — | drug response |
| rs1601526354 | 22:19,949,731 | G/A | — | drug response |
| rs11569716 | 22:19,949,747 | T/C | — | drug response |
| rs1601526452 | 22:19,949,809 | A/T | — | drug response |
| rs1601526514 | 22:19,949,861 | C/A | — | drug response |
| rs6269 | 22:19,949,952 | A/G | regulatory region variant | benign |
| rs1601526839 | 22:19,950,044 | C/T | — | drug response |
| rs1601526844 | 22:19,950,045 | T/C | — | likely benign |
| rs1160435070 | 22:19,950,063 | C/T | — | drug response |
| rs561536243 | 22:19,950,064 | G/A | — | drug response |
| rs1601526877 | 22:19,950,066 | C/T | — | drug response |
| rs1601527054 | 22:19,950,146 | C/T | — | drug response |
| rs74745580 | 22:19,950,166 | C/T | — | benign |
| rs1601527185 | 22:19,950,214 | G/A | — | drug response |
| rs4633 | 22:19,950,235 | C/T | synonymous variant | drug response |
| rs745542046 | 22:19,950,256 | C/T | — | likely benign |
| rs6267 | 22:19,950,263 | G/T | missense variant | risk factor |
| rs740602 | 22:19,950,268 | G/A | synonymous variant | drug response |
| rs1601527383 | 22:19,950,280 | G/A | — | drug response |
| rs1601527404 | 22:19,950,292 | C/A | — | drug response |
| rs373611092 | 22:19,950,317 | A/T | — | drug response |
| rs76452330 | 22:19,950,329 | G/T | — | drug response |
| rs3218737 | 22:19,950,347 | C/T | — | benign |
| rs544846648 | 22:19,950,355 | C/T | — | drug response |
| rs1601527641 | 22:19,950,364 | A/G | — | drug response |
| rs1601527677 | 22:19,950,374 | C/T | — | drug response |
| rs1601527752 | 22:19,950,423 | A/G | — | drug response |
| rs1601527756 | 22:19,950,427 | C/T | — | drug response |
| rs2239393 | 22:19,950,428 | A/G | regulatory region variant | drug response |
| rs1374067391 | 22:19,951,059 | C/A | — | drug response |
| rs1601528913 | 22:19,951,060 | A/C | — | drug response |
| rs754397556 | 22:19,951,061 | C/T | — | drug response |
| rs778498490 | 22:19,951,062 | C/A | — | drug response |
| rs1428959883 | 22:19,951,086 | C/T | — | drug response |
| rs5031015 | 22:19,951,103 | G/A | — | benign |
| rs757949902 | 22:19,951,105 | C/T | — | likely benign |
| rs1601529164 | 22:19,951,133 | C/T | — | drug response |
| rs1601529201 | 22:19,951,149 | C/T | — | drug response |
| rs1223964672 | 22:19,951,174 | C/T | — | drug response |
| rs1601529307 | 22:19,951,189 | G/C | — | drug response |
| rs769223 | 22:19,951,201 | G/A | — | likely benign |
| rs4818 | 22:19,951,207 | C/G | synonymous variant | drug response |
| rs150437940 | 22:19,951,220 | A/G | — | likely benign |
| rs145228139 | 22:19,951,227 | C/G | — | uncertain significance |
| rs8192488 | 22:19,951,237 | C/T | synonymous variant | benign |
| rs1601529532 | 22:19,951,258 | G/A | — | drug response |
| rs4680 | 22:19,951,271 | G/A | missense variant | benign |
| rs1601529589 | 22:19,951,279 | C/G | — | drug response |
| rs1601529615 | 22:19,951,290 | T/C | — | likely benign |
| rs1337529868 | 22:19,951,584 | T/G | — | drug response |
| rs1601530120 | 22:19,951,588 | C/T | — | drug response |
| rs147863086 | 22:19,951,604 | C/G | — | drug response |
| rs1601530294 | 22:19,951,661 | G/A | — | drug response |
Showing 100 of 198 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.