SWISSVAR

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