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Known Diseases associated with this Protein: |  MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
| MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (MOCODB)
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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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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs2233217 | Polymorphism | p.ALA99VAL | N/A | | Swiss-Prot | VAR_050094 | Polymorphism | p.ASN187SER | N/A | | Swiss-Prot | VAR_012765 | Disease | p.GLU168LYS | Molybdenum cofactor deficiency, complementation group B (MOCODB) | | Swiss-Prot | VAR_050093 | Polymorphism | p.HIS123TYR | N/A | | dbSNP | rs2233213 | Polymorphism | p.THR50ALA | N/A | | Swiss-Prot | VAR_050092 | Polymorphism | p.THR77ALA | N/A | | OMIM | 603708.0006 | Disease | p.GLN6TER | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B | | OMIM | 603708.0002 | Disease | p.GLU168LYS | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B |
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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20138899
MOC2B_HUMAN RecName: Full=Molybdopterin synthase catalytic subunit; AltName: Full=MOCO1-B; AltName: Full=Molybdenum cofactor synthesis protein 2 large subunit; AltName: Full=Molybdenum cofactor synthesis protein 2B; Short=MOCS2B; AltName: Full=Molybdopterin-synthase large subunit; Short=MPT synthase large subunit
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