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Known Diseases associated with this Protein: |  HIRSCHSPRUNG DISEASE CARDIAC DEFECTS AND AUTONOMIC DYSFUNCTION (HSCRCDAD)
| HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION
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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_026747 | Disease | p.ARG754CYS | Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) | | dbSNP | rs1076669 | Polymorphism | p.THR341ILE | N/A | | Swiss-Prot | VAR_054007 | Polymorphism | p.TRP630ARG | N/A | | OMIM | 600423.0001 | Disease | p.ARG742CYS | HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION |
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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1706563
ECE1_HUMAN RecName: Full=Endothelin-converting enzyme 1; Short=ECE-1
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