SWISSVAR
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1 protein found in SwissVar (14 variants)

with gene/protein name P48637

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)
P48637 GSHB_HUMAN glutathione synthetase deficiency p.Ala26Asp
p.Leu188Pro
p.Asp219Ala
p.Asp219Gly
p.Leu254Arg
p.Arg267Trp
p.Tyr270His
p.Tyr270Cys
p.Arg283Cys
p.Leu286Gln
p.Leu301Pro
p.Arg330Cys
p.Gly464Val
p.Asp469Glu
2HGSA (26)
2HGSA (188)
2HGSA (219)
2HGSA (219)
2HGSA (254)
2HGSA (267)
2HGSA (270)
2HGSA (270)
2HGSA (283)
2HGSA (286)

2HGSA (330)
2HGSA (464)
2HGSA (469)
P48637 GSHB_HUMAN glutathione synthetase deficiency of erythrocytes