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Known Diseases associated with this Protein: |  MILD VARIANT
| MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DY
| MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
| MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET,
| MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA (EMARDD)
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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_036989 | Polymorphism | p.ARG1072LYS | N/A | | Swiss-Prot | VAR_067469 | Polymorphism | p.ARG71TRP | N/A | | Swiss-Prot | VAR_067470 | Disease | p.CYS326ARG | Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) | | Swiss-Prot | VAR_067471 | Disease | p.CYS774ARG | Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) | | Swiss-Prot | VAR_046377 | Polymorphism | p.PRO897LEU | N/A | | dbSNP | rs3812054 | Polymorphism | p.VAL206ILE | N/A | | OMIM | 612453.0008 | Disease | p.ARG71TRP | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET,||MILD VARIANT | | OMIM | 612453.0007 | Disease | p.CYS326ARG | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET,||MILD VARIANT | | OMIM | 612453.0006 | Disease | p.CYS774ARG | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET||MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DY | | OMIM | 612453.0003 | Disease | p.CYS767TER | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET | | OMIM | 612453.0002 | Disease | p.TRP520TER | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET | | OMIM | 612453.0004 | Disease | p.TYR1048TER | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET |
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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74716908
MEG10_HUMAN RecName: Full=Multiple epidermal growth factor-like domains protein 10; Short=Multiple EGF-like domains protein 10; Flags: Precursor
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