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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1023863848 | 3:58,413,396 | A/T | — | uncertain significance |
| rs886058776 | 3:58,413,401 | T/C | — | uncertain significance |
| rs1126737 | 3:58,413,405 | T/C | — | benign |
| rs1126735 | 3:58,413,408 | A/G | — | benign |
| rs2062880125 | 3:58,413,433 | T/C | — | uncertain significance |
| rs7231 | 3:58,413,465 | C/G | — | benign |
| rs1126722 | 3:58,413,518 | T/G | — | benign |
| rs146644840 | 3:58,413,557 | G/C | — | likely benign |
| rs375277648 | 3:58,413,560 | A/G | — | likely benign |
| rs886058777 | 3:58,413,562 | A/C | — | uncertain significance |
| rs546485141 | 3:58,413,588 | G/A | — | uncertain significance |
| rs2062883381 | 3:58,413,601 | T/C | — | uncertain significance |
| rs7230 | 3:58,413,662 | G/A | — | benign |
| rs4228 | 3:58,413,669 | G/T | — | benign |
| rs766780930 | 3:58,413,684 | G/A | — | uncertain significance |
| rs374476885 | 3:58,413,754 | G/C | — | uncertain significance |
| rs1323403685 | 3:58,413,761 | C/T | — | likely benign |
| rs2471362659 | 3:58,413,767 | A/G | — | likely benign |
| rs768436316 | 3:58,413,772 | A/G | — | conflicting classifications of pathogenicity |
| rs2471362688 | 3:58,413,773 | T/A | — | likely benign |
| rs1315687521 | 3:58,413,776 | T/C | — | likely benign |
| rs748366089 | 3:58,413,784 | T/C | — | uncertain significance |
| rs2471362746 | 3:58,413,788 | A/G | — | likely benign |
| rs1641509410 | 3:58,413,791 | T/C | — | uncertain significance |
| rs772087134 | 3:58,413,794 | G/T | — | likely benign |
| rs987571203 | 3:58,413,806 | C/G | — | uncertain significance |
| rs28933391 | 3:58,413,811 | G/A | missense variant | pathogenic |
| rs149830613 | 3:58,413,812 | T/C | — | uncertain significance |
| rs1462611352 | 3:58,413,827 | T/C | — | likely benign |
| rs751210948 | 3:58,413,833 | C/T | — | likely benign |
| rs767192593 | 3:58,413,835 | T/C | — | uncertain significance |
| rs749945707 | 3:58,413,836 | T/C | — | likely benign |
| rs755616546 | 3:58,413,839 | A/G | — | likely benign |
| rs267599918 | 3:58,413,851 | G/A | — | likely benign |
| rs1231576426 | 3:58,413,857 | A/G | — | likely benign |
| rs754765239 | 3:58,413,866 | G/A | — | likely benign |
| rs1576955015 | 3:58,413,879 | G/A | — | uncertain significance |
| rs199983136 | 3:58,413,885 | T/A | — | conflicting classifications of pathogenicity |
| rs1576955034 | 3:58,413,887 | C/G | — | likely benign |
| rs2471363094 | 3:58,413,889 | G/A | — | likely benign |
| rs945747382 | 3:58,413,890 | G/A | — | likely benign |
| rs148770511 | 3:58,413,899 | C/T | — | likely benign |
| rs770940287 | 3:58,413,900 | G/A | — | uncertain significance |
| rs1576955073 | 3:58,413,902 | A/G | — | likely benign |
| rs201105914 | 3:58,413,904 | G/C | — | conflicting classifications of pathogenicity |
| rs368198266 | 3:58,413,910 | G/A | — | likely benign |
| rs1418680590 | 3:58,413,911 | G/A | — | likely benign |
| rs2107936427 | 3:58,413,913 | G/A | — | likely benign |
| rs935875454 | 3:58,413,915 | A/G | — | likely benign |
| rs200752186 | 3:58,413,918 | A/C | — | likely benign |
| rs2471363184 | 3:58,413,923 | T/C | — | likely benign |
| rs6445980 | 3:58,414,052 | C/G | — | benign |
| rs1175338368 | 3:58,414,189 | C/A | — | likely benign |
| rs1454439049 | 3:58,414,199 | C/T | — | likely pathogenic |
| rs1274009542 | 3:58,414,207 | G/A | — | likely benign |
| rs2471363657 | 3:58,414,210 | C/A | — | uncertain significance |
| rs1237258897 | 3:58,414,212 | T/C | — | uncertain significance |
| rs145876456 | 3:58,414,218 | A/G | — | uncertain significance |
| rs140921216 | 3:58,414,219 | G/T | — | likely benign |
| rs2471363671 | 3:58,414,228 | T/C | — | likely benign |
| rs145795547 | 3:58,414,237 | A/G | — | likely benign |
| rs763844372 | 3:58,414,249 | G/C | — | likely benign |
| rs371393276 | 3:58,414,268 | A/G | — | uncertain significance |
| rs1237030552 | 3:58,414,273 | A/G | — | likely benign |
| rs369190855 | 3:58,414,282 | C/A | — | uncertain significance |
| rs2062893319 | 3:58,414,287 | C/T | — | uncertain significance |
| rs148957406 | 3:58,414,293 | C/A | — | uncertain significance |
| rs2471363809 | 3:58,414,294 | T/C | — | likely benign |
| rs1392622459 | 3:58,414,298 | A/G | — | uncertain significance |
| rs372743787 | 3:58,414,308 | T/A | — | uncertain significance |
| rs2062893552 | 3:58,414,309 | G/A | — | likely benign |
| rs1444305170 | 3:58,414,324 | G/A | — | likely benign |
| rs769187141 | 3:58,414,328 | C/T | — | uncertain significance |
| rs759100596 | 3:58,414,354 | T/C | — | likely benign |
| rs369381070 | 3:58,414,356 | T/C | — | likely benign |
| rs2471363953 | 3:58,414,357 | A/G | — | likely benign |
| rs62259769 | 3:58,414,382 | C/T | — | benign |
| rs11719957 | 3:58,415,031 | A/G | downstream gene variant | — |
| rs55646457 | 3:58,415,263 | T/A | — | benign |
| rs769394650 | 3:58,415,417 | A/G | — | likely benign |
| rs2471365573 | 3:58,415,422 | A/G | — | likely benign |
| rs762944918 | 3:58,415,426 | T/C | — | likely benign |
| rs761614417 | 3:58,415,445 | A/G | — | uncertain significance |
| rs1560187249 | 3:58,415,446 | C/T | — | uncertain significance |
| rs767174898 | 3:58,415,451 | T/C | — | uncertain significance |
| rs2062903901 | 3:58,415,452 | C/T | — | uncertain significance |
| rs2062903975 | 3:58,415,459 | T/C | — | likely benign |
| rs766540951 | 3:58,415,480 | G/A | — | likely benign |
| rs2471365673 | 3:58,415,486 | G/A | — | likely benign |
| rs755045002 | 3:58,415,497 | T/G | — | likely benign |
| rs2471365694 | 3:58,415,506 | A/G | — | uncertain significance |
| rs1576956301 | 3:58,415,510 | C/G | — | likely benign |
| rs779577082 | 3:58,415,517 | A/T | — | uncertain significance |
| rs2107938396 | 3:58,415,519 | A/G | — | likely benign |
| rs377063331 | 3:58,415,529 | G/A | — | conflicting classifications of pathogenicity |
| rs370346593 | 3:58,415,534 | C/T | — | likely benign |
| rs2471365783 | 3:58,415,536 | G/C | — | likely benign |
| rs4585221 | 3:58,415,567 | C/T | — | benign |
| rs2070662 | 3:58,415,590 | C/A | — | benign |
| rs748895863 | 3:58,415,837 | A/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.