SWISSVAR
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1 protein found in SwissVar (20 variants)

with gene/protein name P08559

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)
P08559 ODPA_HUMAN pyruvate dehydrogenase e1-alpha deficiency p.Arg10Pro
p.Arg72Cys
p.His113Asp
p.Gly162Arg
p.Val167Met
p.Ala199Thr
p.Phe205Leu
p.Met210Val
p.Pro217Leu
p.Thr231Ala
p.Tyr243Asn
p.Asp258Ala
p.Arg263Gly
p.Arg263Gln
p.Arg288His
p.His292Leu
p.Arg302Cys
p.Arg302His
p.Asp315Asn
p.Arg378His