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Known Diseases associated with this Protein: |  B CELL-POSITIVE, NK CELL-POSITIVE
| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
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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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| Swiss-Prot | VAR_049646 | Polymorphism | p.GLN147ARG | N/A | | OMIM | 186790.0001 | Disease | p.ARG68TER | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-POSITIVE, NK CELL-POSITIVE | | OMIM | 186790.0002 | Disease | p.CYS93TER | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-POSITIVE, NK CELL-POSITIVE |
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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115985
CD3D_HUMAN RecName: Full=T-cell surface glycoprotein CD3 delta chain; AltName: Full=T-cell receptor T3 delta chain; AltName: CD_antigen=CD3d; Flags: Precursor
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