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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 | rs41515445 | Polymorphism | p.GLU530ASP | N/A | | Swiss-Prot | VAR_069711 | Disease | p.GLU134GLY | Persistent polyclonal B-cell lymphocytosis (PPBL) | | Swiss-Prot | VAR_069710 | Disease | p.GLY123SER | Persistent polyclonal B-cell lymphocytosis (PPBL) | | Swiss-Prot | VAR_028118 | Polymorphism | p.SER694LEU | N/A | | Swiss-Prot | VAR_028117 | Polymorphism | p.THR670MET | N/A | | OMIM | 607210.0003 | Disease | p.GLN945TER | IMMUNODEFICIENCY 11 | | OMIM | 607210.0001 | Disease | p.GLU127GLY | PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS | | OMIM | 607210.0002 | Disease | p.GLY116SER | PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS |
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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172046231
CAR11_HUMAN RecName: Full=Caspase recruitment domain-containing protein 11; AltName: Full=CARD-containing MAGUK protein 1; Short=Carma 1
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