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Known Diseases associated with this Protein: |  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
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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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| dbSNP | rs871443 | Polymorphism | p.LEU1709PRO | N/A | | OMIM | 147557.0015 | Disease | p.ARG1225HIS | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA | | OMIM | 147557.0004 | Disease | p.ARG554TER | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA | | OMIM | 147557.0014 | Disease | p.ARG1281TRP | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA | | OMIM | 147557.0009 | Disease | p.CYS38ARG | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA | | OMIM | 147557.0006 | Disease | p.CYS562ARG | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA | | OMIM | 147557.0005 | Disease | p.CYS61TYR | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA | | OMIM | 147557.0012 | Disease | p.GLY931ASP | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE | | OMIM | 147557.0003 | Disease | p.LEU156PRO | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA | | OMIM | 147557.0008 | Disease | p.TRP1408TER | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA |
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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54607033
integrin beta-4 isoform 3 precursor [Homo sapiens]
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