|  | 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 | rs1990760 | Polymorphism | p.ALA946THR | N/A | | dbSNP | rs10930046 | Polymorphism | p.HIS460ARG | N/A | | dbSNP | rs3747517 | Polymorphism | p.HIS843ARG | N/A |
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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134047802
IFIH1_HUMAN RecName: Full=Interferon-induced helicase C domain-containing protein 1; AltName: Full=Clinically amyopathic dermatomyositis autoantigen 140 kDa; Short=CADM-140 autoantigen; AltName: Full=Helicase with 2 CARD domains; Short=Helicard; AltName: Full=Interferon-induced with helicase C domain protein 1; AltName: Full=Melanoma differentiation-associated protein 5; Short=MDA-5; AltName: Full=Murabutide down-regulated protein; AltName: Full=RIG-I-like receptor 2; Short=RLR-2; AltName: Full=RNA helicase-DEAD box protein 116
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