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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs11575926 | Polymorphism | p.ARG156HIS | N/A | | Swiss-Prot | VAR_015577 | Disease | p.ARG213TRP | Mendelian susceptibility to mycobacterial disease (MSMD) | | dbSNP | rs11575934 | Polymorphism | p.GLN214ARG | N/A | | dbSNP | rs401502 | Polymorphism | p.GLY378ARG | N/A | | Swiss-Prot | VAR_021285 | Polymorphism | p.HIS339GLN | N/A | | dbSNP | rs375947 | Polymorphism | p.MET365THR | N/A | | Swiss-Prot | VAR_021281 | Polymorphism | p.PRO3GLN | N/A | | dbSNP | rs17887176 | Polymorphism | p.PRO47SER | N/A | | OMIM | 601604.0004 | Disease | p.ARG213TRP | MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO | | OMIM | 601604.0007 | Disease | p.CYS198ARG | MYCOBACTERIAL INFECTIONS, SUSCEPTIBILITY TO | | OMIM | 601604.0001 | Disease | p.GLN32TER | MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO | | OMIM | 601604.0002 | Disease | p.GLN376TER | MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO |
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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1170462
I12R1_HUMAN RecName: Full=Interleukin-12 receptor subunit beta-1; Short=IL-12 receptor subunit beta-1; Short=IL-12R subunit beta-1; Short=IL-12R-beta-1; Short=IL-12RB1; AltName: Full=IL-12 receptor beta component; AltName: CD_antigen=CD212; Flags: Precursor
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