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Known Diseases associated with this Protein: |  DIARRHEA 3, SECRETORY SODIUM, CONGENITAL (DIAR3)
| DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC
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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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| KU | smart00131 | 9.9e-21 | 131 | 183 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_058718 | Disease | p.TYR163CYS | Diarrhea 3, secretory sodium, congenital (DIAR3) | | dbSNP | rs11548457 | Polymorphism | p.VAL200LEU | N/A | | OMIM | 605124.0005 | Disease | p.MET1LEU | DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC | | OMIM | 605124.0002 | Disease | p.TYR163CYS | DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC |
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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13124550
SPIT2_HUMAN RecName: Full=Kunitz-type protease inhibitor 2; AltName: Full=Hepatocyte growth factor activator inhibitor type 2; Short=HAI-2; AltName: Full=Placental bikunin; Flags: Precursor
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