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Known Diseases associated with this Protein: |  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
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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 | rs1154232 | Polymorphism | p.ASN2759LYS | N/A | | dbSNP | rs958631 | Polymorphism | p.PHE1774LEU | N/A | | dbSNP | rs17202961 | Polymorphism | p.PRO1208THR | N/A | | dbSNP | rs9952370 | Polymorphism | p.THR2646ALA | N/A | | dbSNP | rs17187262 | Polymorphism | p.THR796ASN | N/A | | dbSNP | rs12457323 | Polymorphism | p.VAL1206ALA | N/A | | OMIM | 600805.0002 | Disease | p.ARG650TER | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE | | OMIM | 600805.0003 | Disease | p.GLN1368TER | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE |
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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189217425
laminin subunit alpha-3 isoform 3 precursor [Homo sapiens]
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