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.Arg263Gln
p.Arg263Gly
p.Arg288His
p.His292Leu
p.Arg302His
p.Arg302Cys
p.Asp315Asn
p.Arg378His

2OZLC (43)
2OZLC (84)
3EXFE (133)
3EXEA (138)
3EXEG (170)
3EXEG (176)
3EXEA (181)
3EXHE (188)
2OZLC (202)
3EXEC (214)
3EXIA (229)
2OZLC (234)
2OZLC (234)
3EXFG (259)
3EXFG (263)
3EXEA (273)
3EXEA (273)
3EXHG (286)
2OZLC (349)