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Known Diseases associated with this Protein: | IMMUNODEFICIENCY WITH HYPER-IGM 3 (HIGM3)
| IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_013628 | Disease | p.CYS83ARG | Immunodeficiency with hyper-IgM 3 (HIGM3) | Swiss-Prot | VAR_039301 | Polymorphism | p.CYS26GLN | N/A | Swiss-Prot | VAR_018752 | Polymorphism | p.PRO227ALA | N/A | Swiss-Prot | VAR_039302 | Polymorphism | p.SER35GLY | N/A | dbSNP | rs11569321 | Polymorphism | p.SER124LEU | N/A | Swiss-Prot | VAR_039303 | Polymorphism | p.SER39THR | N/A | OMIM | 109535.0002 | Disease | p.CYS83ARG | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 |
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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