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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_024028 | Disease | p.ALA181GLY | Immunodeficiency, common variable, 2 (CVID2) | | Swiss-Prot | VAR_024029 | Disease | p.ARG202HIS | Immunodeficiency, common variable, 2 (CVID2) | | Swiss-Prot | VAR_024027 | Disease | p.CYS104ARG | Immunoglobulin A deficiency 2 (IGAD2) | | Swiss-Prot | VAR_064758 | Polymorphism | p.HIS56ASN | N/A | | dbSNP | rs34562254 | Polymorphism | p.PRO251LEU | N/A | | OMIM | 604907.0002 | Disease | p.ALA181GLU | IMMUNODEFICIENCY, COMMON VARIABLE, 2||IMMUNOGLOBULIN A DEFICIENCY 2, INCLUDED | | OMIM | 604907.0003 | Disease | p.ARG202HIS | IMMUNODEFICIENCY, COMMON VARIABLE, 2 | | OMIM | 604907.0001 | Disease | p.CYS104ARG | IMMUNODEFICIENCY, COMMON VARIABLE, 2||IMMUNOGLOBULIN A DEFICIENCY 2, INCLUDED | | OMIM | 604907.0006 | Disease | p.SER144TER | IMMUNODEFICIENCY, COMMON VARIABLE, 2 | | OMIM | 604907.0005 | Disease | p.SER194TER | IMMUNODEFICIENCY, COMMON VARIABLE, 2 |
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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21264086
TR13B_HUMAN RecName: Full=Tumor necrosis factor receptor superfamily member 13B; AltName: Full=Transmembrane activator and CAML interactor; AltName: CD_antigen=CD267
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