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Results for the Protein: P48637
1346191
GSS

GSHB_HUMAN RecName: Full=Glutathione synthetase; Short=GSH synthetase; Short=GSH-S; AltName: Full=Glutathione synthase

Known Diseases associated with this Protein:
  DUE TO
  GLUTATHIONE SYNTHETASE DEFICIENCY
  GLUTATHIONE SYNTHETASE DEFICIENCY (GSS DEFICIENCY)
  GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA
18
2
5
0
15
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GSH_synth_ATP - pfam03917
eu-GS - cd00228
GSH_synthase - pfam03199


Swiss-Prot Protein: P48637
Identical to: NP_000169
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GSH_synth_ATPpfam039172e-2925474
GSH_synthasepfam031998.8e-56203302

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003602Diseasep.ALA26ASPGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003610Diseasep.ARG283CYSGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003612Diseasep.ARG330CYSGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_025047Polymorphismp.ARG236GLNN/A
Swiss-ProtVAR_003607Diseasep.ARG267TRPGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003604Diseasep.ASP219ALAGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003614Diseasep.ASP469GLUGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003605Diseasep.ASP219GLYGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003613Diseasep.GLY464VALGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003606Diseasep.LEU254ARGGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003611Diseasep.LEU286GLNGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003603Diseasep.LEU188PROGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_025048Polymorphismp.LYS437GLUN/A
Swiss-ProtVAR_003608Diseasep.TYR270CYSGlutathione synthetase deficiency (GSS deficiency)
Swiss-ProtVAR_003609Diseasep.TYR270HISGlutathione synthetase deficiency (GSS deficiency)
OMIM601002.0005 Diseasep.ARG125CYSGLUTATHIONE SYNTHETASE DEFICIENCY
OMIM601002.0004 Diseasep.ARG283CYSGLUTATHIONE SYNTHETASE DEFICIENCY
OMIM601002.0001 Diseasep.ARG164GLNGLUTATHIONE SYNTHETASE DEFICIENCY
OMIM601002.0003 Diseasep.ARG267TRPGLUTATHIONE SYNTHETASE DEFICIENCY
OMIM601002.0007 Diseasep.ASP219GLYGLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA||DUE TO



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