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|  | Tips:  The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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 Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_021110 | Disease | p.ARG127CYS | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) | | Swiss-Prot | VAR_013514 | Disease | p.HIS370LEU | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) | | Swiss-Prot | VAR_014884 | Polymorphism | p.LEU55SER | N/A | | Swiss-Prot | VAR_015403 | Disease | p.PRO158LEU | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) | | dbSNP | rs17883718 | Polymorphism | p.PRO462SER | N/A | | OMIM | 606857.0001 | Disease | p.HIS370LEU | GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE||TO |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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1346190
GSH1_HUMAN RecName: Full=Glutamate--cysteine ligase catalytic subunit; AltName: Full=GCS heavy chain; AltName: Full=Gamma-ECS; AltName: Full=Gamma-glutamylcysteine synthetase
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