PDHB

pyruvate dehydrogenase E1 subunit beta

Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]

Known Variants317 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10238638483:58,413,396A/T—uncertain significance
rs8860587763:58,413,401T/C—uncertain significance
rs11267373:58,413,405T/C—benign
rs11267353:58,413,408A/G—benign
rs20628801253:58,413,433T/C—uncertain significance
rs72313:58,413,465C/G—benign
rs11267223:58,413,518T/G—benign
rs1466448403:58,413,557G/C—likely benign
rs3752776483:58,413,560A/G—likely benign
rs8860587773:58,413,562A/C—uncertain significance
rs5464851413:58,413,588G/A—uncertain significance
rs20628833813:58,413,601T/C—uncertain significance
rs72303:58,413,662G/A—benign
rs42283:58,413,669G/T—benign
rs7667809303:58,413,684G/A—uncertain significance
rs3744768853:58,413,754G/C—uncertain significance
rs13234036853:58,413,761C/T—likely benign
rs24713626593:58,413,767A/G—likely benign
rs7684363163:58,413,772A/G—conflicting classifications of pathogenicity
rs24713626883:58,413,773T/A—likely benign
rs13156875213:58,413,776T/C—likely benign
rs7483660893:58,413,784T/C—uncertain significance
rs24713627463:58,413,788A/G—likely benign
rs16415094103:58,413,791T/C—uncertain significance
rs7720871343:58,413,794G/T—likely benign
rs9875712033:58,413,806C/G—uncertain significance
rs289333913:58,413,811G/Amissense variantpathogenic
rs1498306133:58,413,812T/C—uncertain significance
rs14626113523:58,413,827T/C—likely benign
rs7512109483:58,413,833C/T—likely benign
rs7671925933:58,413,835T/C—uncertain significance
rs7499457073:58,413,836T/C—likely benign
rs7556165463:58,413,839A/G—likely benign
rs2675999183:58,413,851G/A—likely benign
rs12315764263:58,413,857A/G—likely benign
rs7547652393:58,413,866G/A—likely benign
rs15769550153:58,413,879G/A—uncertain significance
rs1999831363:58,413,885T/A—conflicting classifications of pathogenicity
rs15769550343:58,413,887C/G—likely benign
rs24713630943:58,413,889G/A—likely benign
rs9457473823:58,413,890G/A—likely benign
rs1487705113:58,413,899C/T—likely benign
rs7709402873:58,413,900G/A—uncertain significance
rs15769550733:58,413,902A/G—likely benign
rs2011059143:58,413,904G/C—conflicting classifications of pathogenicity
rs3681982663:58,413,910G/A—likely benign
rs14186805903:58,413,911G/A—likely benign
rs21079364273:58,413,913G/A—likely benign
rs9358754543:58,413,915A/G—likely benign
rs2007521863:58,413,918A/C—likely benign
rs24713631843:58,413,923T/C—likely benign
rs64459803:58,414,052C/G—benign
rs11753383683:58,414,189C/A—likely benign
rs14544390493:58,414,199C/T—likely pathogenic
rs12740095423:58,414,207G/A—likely benign
rs24713636573:58,414,210C/A—uncertain significance
rs12372588973:58,414,212T/C—uncertain significance
rs1458764563:58,414,218A/G—uncertain significance
rs1409212163:58,414,219G/T—likely benign
rs24713636713:58,414,228T/C—likely benign
rs1457955473:58,414,237A/G—likely benign
rs7638443723:58,414,249G/C—likely benign
rs3713932763:58,414,268A/G—uncertain significance
rs12370305523:58,414,273A/G—likely benign
rs3691908553:58,414,282C/A—uncertain significance
rs20628933193:58,414,287C/T—uncertain significance
rs1489574063:58,414,293C/A—uncertain significance
rs24713638093:58,414,294T/C—likely benign
rs13926224593:58,414,298A/G—uncertain significance
rs3727437873:58,414,308T/A—uncertain significance
rs20628935523:58,414,309G/A—likely benign
rs14443051703:58,414,324G/A—likely benign
rs7691871413:58,414,328C/T—uncertain significance
rs7591005963:58,414,354T/C—likely benign
rs3693810703:58,414,356T/C—likely benign
rs24713639533:58,414,357A/G—likely benign
rs622597693:58,414,382C/T—benign
rs117199573:58,415,031A/Gdownstream gene variant—
rs556464573:58,415,263T/A—benign
rs7693946503:58,415,417A/G—likely benign
rs24713655733:58,415,422A/G—likely benign
rs7629449183:58,415,426T/C—likely benign
rs7616144173:58,415,445A/G—uncertain significance
rs15601872493:58,415,446C/T—uncertain significance
rs7671748983:58,415,451T/C—uncertain significance
rs20629039013:58,415,452C/T—uncertain significance
rs20629039753:58,415,459T/C—likely benign
rs7665409513:58,415,480G/A—likely benign
rs24713656733:58,415,486G/A—likely benign
rs7550450023:58,415,497T/G—likely benign
rs24713656943:58,415,506A/G—uncertain significance
rs15769563013:58,415,510C/G—likely benign
rs7795770823:58,415,517A/T—uncertain significance
rs21079383963:58,415,519A/G—likely benign
rs3770633313:58,415,529G/A—conflicting classifications of pathogenicity
rs3703465933:58,415,534C/T—likely benign
rs24713657833:58,415,536G/C—likely benign
rs45852213:58,415,567C/T—benign
rs20706623:58,415,590C/A—benign
rs7488958633:58,415,837A/G—likely benign

Showing 100 of 317 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.