|  | 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_053446 | Polymorphism | p.ASP624HIS | N/A | | dbSNP | rs76335013 | Polymorphism | p.LYS441ARG | N/A | | Swiss-Prot | VAR_053445 | Polymorphism | p.THR507MET | N/A | | dbSNP | rs75299101 | Polymorphism | p.VAL526ILE | N/A |
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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27805492
JPH1_HUMAN RecName: Full=Junctophilin-1; Short=JP-1; AltName: Full=Junctophilin type 1
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