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Known Diseases associated with this Protein: | CRIGLER-NAJJAR SYNDROME 1 (CN1)
| CRIGLER-NAJJAR SYNDROME 2 (CN2)
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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 Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs3892221 | Polymorphism | p.ARG11TRP | N/A | Swiss-Prot | VAR_007710 | Disease | p.GLN332ARG | Crigler-Najjar syndrome 2 (CN2) | Swiss-Prot | VAR_061870 | Polymorphism | p.HIS68TYR | N/A | dbSNP | rs45540231 | Polymorphism | p.ILE176PHE | N/A | Swiss-Prot | VAR_009506 | Disease | p.LEU132PRO | Crigler-Najjar syndrome 2 (CN2) | dbSNP | rs2011425 | Polymorphism | p.LEU48VAL | N/A | dbSNP | rs6755571 | Polymorphism | p.PRO24THR | N/A | Swiss-Prot | VAR_007711 | Disease | p.SER376PHE | Crigler-Najjar syndrome 1 (CN1) | Swiss-Prot | VAR_009507 | Disease | p.TYR487ASP | Crigler-Najjar syndrome 2 (CN2) |
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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