MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Summary
This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants758 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2966952 | 5:7,868,030 | T/C | missense variant | — |
| rs326118 | 5:7,868,543 | T/G | upstream gene variant | — |
| rs142579733 | 5:7,869,153 | G/A | — | likely benign |
| rs886060803 | 5:7,869,219 | A/C | — | uncertain significance |
| rs72716536 | 5:7,869,235 | T/C | — | benign |
| rs531596693 | 5:7,869,309 | G/T | — | likely benign |
| rs112175362 | 5:7,869,313 | G/C | — | uncertain significance |
| rs765348828 | 5:7,869,323 | G/A | — | uncertain significance |
| rs750278866 | 5:7,869,326 | T/G | — | uncertain significance |
| rs148267849 | 5:7,869,328 | G/T | — | uncertain significance |
| rs202133025 | 5:7,869,334 | C/G | — | likely benign |
| rs374795934 | 5:7,869,336 | G/C | — | likely benign |
| rs201383481 | 5:7,869,339 | T/G | — | uncertain significance |
| rs368193742 | 5:7,869,342 | C/T | — | conflicting classifications of pathogenicity |
| rs75888760 | 5:7,869,578 | C/T | — | benign |
| rs138374466 | 5:7,869,591 | C/T | — | likely benign |
| rs326119 | 5:7,870,083 | C/A | — | benign |
| rs780448175 | 5:7,870,882 | G/A | — | likely pathogenic |
| rs1747827267 | 5:7,870,908 | A/G | — | pathogenic |
| rs560321328 | 5:7,870,913 | G/A | — | conflicting classifications of pathogenicity |
| rs763313419 | 5:7,870,920 | C/T | — | likely benign |
| rs2126643854 | 5:7,870,922 | G/A | — | likely benign |
| rs2126643873 | 5:7,870,923 | T/C | — | likely benign |
| rs114427781 | 5:7,870,928 | A/G | — | likely benign |
| rs1747831647 | 5:7,870,931 | T/C | — | likely benign |
| rs751400453 | 5:7,870,933 | C/G | — | uncertain significance |
| rs114748706 | 5:7,870,934 | T/C | — | conflicting classifications of pathogenicity |
| rs752509731 | 5:7,870,946 | A/G | — | likely benign |
| rs1361329417 | 5:7,870,958 | C/G | — | likely benign |
| rs753325140 | 5:7,870,959 | A/G | — | uncertain significance |
| rs6413426 | 5:7,870,961 | C/T | — | likely benign |
| rs114847469 | 5:7,870,962 | G/A | — | uncertain significance |
| rs2478644608 | 5:7,870,964 | A/C | — | likely benign |
| rs1801394 | 5:7,870,973 | A/G | missense variant | risk factor |
| rs1553999358 | 5:7,870,982 | A/G | — | likely benign |
| rs1361273528 | 5:7,870,988 | G/A | — | likely benign |
| rs773463459 | 5:7,870,990 | T/C | — | uncertain significance |
| rs1045121482 | 5:7,870,991 | A/G | — | likely benign |
| rs1212726848 | 5:7,870,994 | T/C | — | likely benign |
| rs1747850617 | 5:7,871,006 | A/C | — | likely benign |
| rs141118068 | 5:7,871,008 | A/T | — | uncertain significance |
| rs2126645373 | 5:7,871,009 | T/C | — | likely benign |
| rs1270933581 | 5:7,871,013 | C/T | — | uncertain significance |
| rs1216632556 | 5:7,871,015 | C/T | — | likely benign |
| rs2478648157 | 5:7,871,025 | G/T | — | likely pathogenic |
| rs1237366737 | 5:7,871,027 | A/C | — | uncertain significance |
| rs759379396 | 5:7,871,030 | C/T | — | likely benign |
| rs937595017 | 5:7,871,034 | A/G | — | uncertain significance |
| rs2126645870 | 5:7,871,038 | T/G | — | likely pathogenic |
| rs753379872 | 5:7,871,043 | G/A | — | likely benign |
| rs527869420 | 5:7,871,045 | C/T | — | likely benign |
| rs6413427 | 5:7,871,046 | G/A | — | likely benign |
| rs764960356 | 5:7,871,047 | T/C | — | likely benign |
| rs367741108 | 5:7,871,048 | T/C | — | likely benign |
| rs2478649832 | 5:7,871,049 | A/T | — | likely benign |
| rs749980028 | 5:7,871,050 | C/G | — | likely benign |
| rs1324036507 | 5:7,871,051 | A/G | — | likely benign |
| rs1443181788 | 5:7,871,052 | G/A | — | likely benign |
| rs758051759 | 5:7,871,056 | A/T | — | likely benign |
| rs7722483 | 5:7,871,188 | C/G | — | likely benign |
| rs114713553 | 5:7,873,214 | C/T | — | likely benign |
| rs2478700096 | 5:7,873,466 | T/G | — | likely benign |
| rs1229865329 | 5:7,873,468 | G/A | — | likely benign |
| rs1409862008 | 5:7,873,469 | A/T | — | likely benign |
| rs761320202 | 5:7,873,472 | T/C | — | likely benign |
| rs764724859 | 5:7,873,474 | C/G | — | likely benign |
| rs201823283 | 5:7,873,482 | G/A | — | likely benign |
| rs1748331186 | 5:7,873,484 | A/G | — | likely pathogenic |
| rs2478700578 | 5:7,873,485 | G/A | — | likely pathogenic |
| rs146940932 | 5:7,873,488 | T/G | — | pathogenic |
| rs200682655 | 5:7,873,494 | A/G | — | likely benign |
| rs138612190 | 5:7,873,500 | C/T | — | likely benign |
| rs2478701269 | 5:7,873,515 | T/C | — | likely benign |
| rs2126662749 | 5:7,873,518 | T/C | — | likely benign |
| rs2478701549 | 5:7,873,521 | T/C | — | likely benign |
| rs761061866 | 5:7,873,522 | G/A | — | pathogenic |
| rs2126662820 | 5:7,873,527 | T/A | — | likely benign |
| rs142098262 | 5:7,873,533 | C/G | — | likely benign |
| rs114930926 | 5:7,873,534 | A/G | — | uncertain significance |
| rs2478702200 | 5:7,873,539 | C/T | — | likely benign |
| rs940332374 | 5:7,873,542 | C/T | — | likely benign |
| rs1166869664 | 5:7,873,551 | A/G | — | likely benign |
| rs776410065 | 5:7,873,554 | C/T | — | likely benign |
| rs2478702951 | 5:7,873,560 | A/G | — | likely benign |
| rs374239028 | 5:7,873,564 | C/T | — | uncertain significance |
| rs777202031 | 5:7,873,565 | G/A | — | uncertain significance |
| rs41282641 | 5:7,873,566 | C/G | — | likely benign |
| rs2478703462 | 5:7,873,572 | T/C | — | likely benign |
| rs1748350837 | 5:7,873,573 | G/T | — | uncertain significance |
| rs1748351304 | 5:7,873,576 | A/G | — | uncertain significance |
| rs757746363 | 5:7,873,590 | C/T | — | likely benign |
| rs750493900 | 5:7,873,593 | A/G | — | likely benign |
| rs758448829 | 5:7,873,596 | A/C | — | likely benign |
| rs747303076 | 5:7,873,601 | C/T | — | likely pathogenic |
| rs149300444 | 5:7,873,602 | G/C | — | conflicting classifications of pathogenicity |
| rs2478704791 | 5:7,873,609 | T/G | — | uncertain significance |
| rs138167806 | 5:7,873,617 | T/C | — | likely benign |
| rs770540418 | 5:7,873,620 | C/T | — | likely benign |
| rs773984668 | 5:7,873,624 | C/T | — | uncertain significance |
| rs1318273666 | 5:7,873,633 | T/C | — | likely benign |
Showing 100 of 758 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.