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Known Diseases associated with this Protein: |  HAILEY-HAILEY DISEASE
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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 | rs41434650 | Polymorphism | p.ALA450THR | N/A | | dbSNP | rs61731514 | Polymorphism | p.SER298ARG | N/A | | OMIM | 604384.0002 | Disease | p.ALA270THR | HAILEY-HAILEY DISEASE | | OMIM | 604384.0003 | Disease | p.ARG434TER | HAILEY-HAILEY DISEASE | | OMIM | 604384.0006 | Disease | p.CYS456PHE | HAILEY-HAILEY DISEASE | | OMIM | 604384.0008 | Disease | p.LEU550PRO | HAILEY-HAILEY DISEASE |
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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48762691
calcium-transporting ATPase type 2C member 1 isoform 1b [Homo sapiens]
4
2
4
2
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