1 protein found in SwissVar (7 variants)
with gene/protein name P10515
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| P10515 | ODP2_HUMAN | p.Ala43Val p.Ser98Phe p.Leu99Phe p.Gln209Arg p.Asp313Val p.Val318Ala p.Asp451Asn |
1Y8NB (227) | |
| P10515 | ODP2_HUMAN | primary biliary cirrhosis show autoantibodies against the e2 component of pyruvate dehydrogenase complex | ||
| P10515 | ODP2_HUMAN | pyruvate dehydrogenase e2 deficiency |