MMUT

methylmalonyl-CoA mutase

Summary

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Known Variants811 total

rsidPosition (GRCh37)AllelesClassClinVar
rs93817846:49,398,115C/T—benign
rs5416457796:49,398,122G/A—uncertain significance
rs7810395646:49,398,189A/G—uncertain significance
rs8860615516:49,398,227G/T—uncertain significance
rs7454941006:49,398,257A/G—uncertain significance
rs17669484656:49,398,259A/G—uncertain significance
rs7794369066:49,398,397A/T—uncertain significance
rs8860615526:49,398,455C/T—uncertain significance
rs8860615536:49,398,666T/C—uncertain significance
rs8860615546:49,398,750A/G—uncertain significance
rs12629257616:49,398,805A/T—uncertain significance
rs5342900006:49,398,814G/A—uncertain significance
rs117570986:49,398,861T/C—benign
rs1113227126:49,398,883T/C—uncertain significance
rs5382935376:49,398,975C/T—uncertain significance
rs8860615556:49,398,976G/A—uncertain significance
rs10254416656:49,398,996T/C—uncertain significance
rs1441684256:49,399,160C/T—uncertain significance
rs1827266816:49,399,163T/C—conflicting classifications of pathogenicity
rs1877470986:49,399,184T/G—uncertain significance
rs8860615566:49,399,241T/A—uncertain significance
rs8860615576:49,399,279T/G—uncertain significance
rs1926057766:49,399,315T/C—uncertain significance
rs8860615586:49,399,338T/C—uncertain significance
rs1130259876:49,399,340C/T—likely benign
rs8688558626:49,399,398C/A—uncertain significance
rs1999336416:49,399,407T/C—likely benign
rs21274120226:49,399,442T/C—likely benign
rs7747362756:49,399,444T/A—likely benign
rs14735639966:49,399,450T/C—likely benign
rs14615329046:49,399,456C/G—uncertain significance
rs13524420216:49,399,465C/T—likely benign
rs17669846896:49,399,470A/C—uncertain significance
rs17669850136:49,399,477A/G—likely benign
rs21274120556:49,399,481T/C—uncertain significance
rs7534619196:49,399,488G/A—conflicting classifications of pathogenicity
rs9839983406:49,399,493T/G—uncertain significance
rs8792538526:49,399,494G/Astop gainedpathogenic
rs11833693986:49,399,497C/T—uncertain significance
rs2019632426:49,399,498G/A—benign
rs24812940666:49,399,501A/T—likely benign
rs24812940996:49,399,507T/G—likely benign
rs21274120776:49,399,513T/C—likely benign
rs21274120786:49,399,514C/T—uncertain significance
rs7799909366:49,399,515G/Astop gainedpathogenic
rs7550776816:49,399,526C/T—likely pathogenic
rs24812941626:49,399,527C/T—likely pathogenic
rs7483637526:49,399,532A/Gmissense variantuncertain significance
rs7496105936:49,399,534A/G—likely benign
rs11707121076:49,399,535T/A—uncertain significance
rs1219182526:49,399,544C/Amissense variantpathogenic
rs7635729616:49,399,548C/T—uncertain significance
rs21274121066:49,399,555C/A—likely benign
rs1887968216:49,399,557G/A—likely benign
rs7761769386:49,399,563C/A—pathogenic
rs3759560476:49,399,564A/G—likely benign
rs21274121126:49,399,567A/G—likely benign
rs15818153426:49,399,572G/C—pathogenic
rs21274121166:49,399,579G/A—likely benign
rs7648787696:49,399,583G/A—likely benign
rs7581703456:49,399,584T/C—likely benign
rs7501688266:49,399,586T/C—likely benign
rs1499712306:49,399,787C/T—likely benign
rs5699220646:49,400,979A/C——
rs3762578286:49,403,153T/C—likely benign
rs24813007066:49,403,157G/C—likely benign
rs17670951696:49,403,159T/C—likely benign
rs17670952536:49,403,160A/T—likely benign
rs21274133246:49,403,162A/G—likely benign
rs3703575246:49,403,165A/G—uncertain significance
rs5430292886:49,403,168C/T—pathogenic
rs7692174296:49,403,170T/C—uncertain significance
rs17670957146:49,403,171G/A—pathogenic
rs17670957946:49,403,174G/A—uncertain significance
rs7728885756:49,403,179A/C—likely pathogenic
rs13952391746:49,403,181C/T—likely benign
rs1219182556:49,403,186C/Gmissense variantpathogenic
rs1406007466:49,403,194A/Tmissense variantpathogenic
rs7594071176:49,403,206T/G—uncertain significance
rs5611974736:49,403,209G/A—uncertain significance
rs7527058306:49,403,211C/T—likely benign
rs7562257826:49,403,212C/T—likely pathogenic
rs7777589036:49,403,213G/Amissense variantpathogenic
rs11613567486:49,403,220G/A—likely benign
rs11913688606:49,403,229T/C—likely benign
rs13499466406:49,403,230T/C—uncertain significance
rs7793314756:49,403,231C/A—pathogenic
rs24813009436:49,403,232T/C—likely benign
rs12124713846:49,403,238G/T—likely benign
rs8643097396:49,403,239A/Cmissense variantnot provided
rs7461674636:49,403,241T/C—likely benign
rs8667639816:49,403,246G/A—uncertain significance
rs2014568036:49,403,247A/G—likely benign
rs24813010026:49,403,248A/G—uncertain significance
rs7724420066:49,403,252G/A—likely benign
rs1470949276:49,403,260T/C—likely pathogenic
rs1477153366:49,403,267C/T—pathogenic
rs3737080836:49,403,268A/G—likely benign
rs7726522666:49,403,271G/A—conflicting classifications of pathogenicity
rs11642712406:49,403,273G/C—likely pathogenic

Showing 100 of 811 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.