SWISSVAR

1 protein found in SwissVar (23 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 p.Ala136Thr
p.Met282Leu
p.Glu333Asp

3EXEA (253)
2OZLC (304)
P08559 ODPA_HUMAN pyruvate dehydrogenase e1-alpha deficiency p.Arg10Pro
p.Arg72Cys
p.His113Asp
p.Gly162Arg
p.Val167Met
p.Ala199Thr
p.Met210Val
p.Pro217Leu
p.Thr231Ala
p.Tyr243Asn
p.Arg263Gln
p.Arg263Gly
p.Arg288His
p.His292Leu
p.Arg302His
p.Arg302Cys
p.Asp315Asn

2OZLC (43)
2OZLC (84)
3EXFE (133)
3EXEA (138)
3EXEG (170)
3EXEA (181)
3EXHE (188)
2OZLC (202)
3EXEC (214)
2OZLC (234)
2OZLC (234)
3EXFG (259)
3EXFG (263)
3EXEA (273)
3EXEA (273)
3EXHG (286)
P08559 ODPA_HUMAN leigh syndrome, x-linked p.Phe205Leu
p.Asp258Ala
p.Arg263Gly
p.Arg378His
3EXEG (176)
3EXIA (229)
2OZLC (234)
2OZLC (349)