BCKDHA

branched chain keto acid dehydrogenase E1 subunit alpha

Summary

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Known Variants576 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1298378919:41,903,421A/T—benign
rs53030301219:41,903,574T/A—likely benign
rs89204419:41,903,671A/G—benign
rs89204319:41,903,675A/G—benign
rs4550079219:41,903,699G/T—likely benign
rs11458770719:41,903,705C/G—benign
rs20208422019:41,903,708G/C—conflicting classifications of pathogenicity
rs20119726819:41,903,711C/A—likely benign
rs155576401419:41,903,735G/A—likely pathogenic
rs142039209619:41,903,738G/A—likely benign
rs212323252719:41,903,744G/C—likely benign
rs77843973819:41,903,746T/C—uncertain significance
rs39812349419:41,903,746——pathogenic
rs1717314419:41,903,747C/T—likely benign
rs57489098819:41,903,753A/C—likely benign
rs76823018219:41,903,754G/C—uncertain significance
rs134830761819:41,903,756G/A—likely benign
rs54553740919:41,903,759G/A—likely benign
rs130749524719:41,903,760G/T—uncertain significance
rs212323261319:41,903,762C/T—likely benign
rs251344382719:41,903,764G/A—likely pathogenic
rs120796602619:41,903,765G/A—pathogenic
rs3454144219:41,903,766C/A—likely benign
rs76965920219:41,903,767G/C—conflicting classifications of pathogenicity
rs251344384919:41,903,771A/G—likely benign
rs156849964419:41,903,774C/T—likely benign
rs37140896019:41,903,775C/T—uncertain significance
rs76617493819:41,903,779G/A—uncertain significance
rs117695277019:41,903,787C/T—pathogenic
rs115964564419:41,903,791C/T—uncertain significance
rs75135192619:41,903,792T/C—likely benign
rs75980169319:41,903,794C/T—uncertain significance
rs14032298419:41,903,795C/T—conflicting classifications of pathogenicity
rs251344391019:41,903,798C/T—likely benign
rs212323275319:41,903,801G/C—likely benign
rs77838843719:41,903,805C/T—likely benign
rs159994522819:41,903,807G/A—likely benign
rs159994525019:41,903,816T/G—likely benign
rs159994525519:41,903,819G/A—likely benign
rs203909403219:41,903,844A/G—uncertain significance
rs156849970219:41,903,845G/C—likely pathogenic
rs123508688719:41,903,848C/T—likely benign
rs251344404019:41,903,849C/T—likely benign
rs78083449319:41,903,852G/A—conflicting classifications of pathogenicity
rs251344404519:41,903,854C/T—likely benign
rs134002950919:41,903,855C/A—likely benign
rs156849971119:41,903,857C/T—likely benign
rs381017419:41,904,165C/T—benign
rs14802042019:41,908,035G/Aupstream gene variant—
rs130954055519:41,916,523C/T—likely benign
rs212325354619:41,916,526C/T—likely benign
rs121218243219:41,916,527T/A—uncertain significance
rs101272085119:41,916,528G/A—likely benign
rs251345200419:41,916,531C/G—likely benign
rs86609191819:41,916,533C/G—likely benign
rs146926768319:41,916,536C/T—likely benign
rs212325357519:41,916,537C/T—likely benign
rs203924071419:41,916,538C/G—likely benign
rs212325358319:41,916,541G/A—pathogenic
rs75400757619:41,916,544C/T—likely benign
rs1154993519:41,916,547C/G—likely benign
rs75073970319:41,916,548C/T—likely benign
rs1154993619:41,916,549C/A—likely benign
rs8001475419:41,916,550C/A—likely benign
rs212325368219:41,916,556G/A—likely benign
rs15017727819:41,916,558A/G—conflicting classifications of pathogenicity
rs77084516519:41,916,559G/A—likely benign
rs37462561319:41,916,560C/T—pathogenic
rs135569337319:41,916,562G/A—likely benign
rs122044338219:41,916,563C/T—pathogenic
rs143008078519:41,916,568T/G—uncertain significance
rs37645659819:41,916,570C/Astop gainedpathogenic
rs134256899819:41,916,571A/T—likely benign
rs87910333819:41,916,576T/C—uncertain significance
rs77201091919:41,916,581G/C—uncertain significance
rs203924206019:41,916,589C/T—likely benign
rs77547104319:41,916,592G/C—conflicting classifications of pathogenicity
rs121601725919:41,916,598A/G—likely benign
rs203924229319:41,916,604C/T—likely benign
rs95416865119:41,916,606C/T—uncertain significance
rs57680325119:41,916,607G/A—likely benign
rs13837303519:41,916,609C/T—likely benign
rs75092631719:41,916,610G/A—likely benign
rs251345209519:41,916,616T/C—likely benign
rs14925179819:41,916,619A/T—likely benign
rs75575041519:41,916,625G/A—likely benign
rs203924278919:41,916,629G/T—likely pathogenic
rs138412827719:41,916,631A/G—likely benign
rs77741420319:41,916,635A/G—uncertain significance
rs74876293919:41,916,636T/A—uncertain significance
rs212325388019:41,916,637C/A—likely benign
rs75674740019:41,916,641C/T—uncertain significance
rs251345212219:41,916,643C/T—likely benign
rs14737072519:41,916,645A/G—uncertain significance
rs13802544719:41,916,646C/T—likely benign
rs37355551419:41,916,647G/A—uncertain significance
rs251345213219:41,916,649C/G—likely benign
rs159995301819:41,916,655T/G—likely benign
rs251345214519:41,916,661C/T—likely benign
rs212325394119:41,916,664C/G—likely benign

Showing 100 of 576 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.