SWISSVAR

1 protein found in SwissVar (11 variants)

with gene/protein name P00558

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)
P00558 PGK1_HUMAN p.Asp268Asn
p.Thr352Asn


P00558 PGK1_HUMAN phosphoglycerate kinase 1 deficiency p.Leu88Pro
p.Gly158Val
p.Asp164Val
p.Arg206Pro
p.Glu252Ala
p.Val266Met
p.Asp285Val
p.Asp315Asn
p.Cys316Arg