Known Diseases associated with this Protein: |  IMMUNODEFICIENCY 9
| IMMUNODEFICIENCY 9 (IMD9)
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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_026226 | Disease | p.ARG91TRP | Immunodeficiency 9 (IMD9) | | Swiss-Prot | VAR_038608 | Polymorphism | p.SER218GLY | N/A | | dbSNP | rs3741596 | Polymorphism | p.SER220GLY | N/A | | OMIM | 610277.0001 | Disease | p.ARG91TRP | IMMUNODEFICIENCY 9 |
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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97180269
CRCM1_HUMAN RecName: Full=Calcium release-activated calcium channel protein 1; AltName: Full=Protein orai-1; AltName: Full=Transmembrane protein 142A
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