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Known Diseases associated with this Protein: | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
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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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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs3752033 | Polymorphism | p.ARG39GLN | N/A | dbSNP | rs3752032 | Polymorphism | p.ARG6GLN | N/A | dbSNP | rs77270326 | Polymorphism | p.ARG261HIS | N/A | dbSNP | rs3752034 | Polymorphism | p.ARG40HIS | N/A | dbSNP | rs1657742 | Polymorphism | p.GLN192HIS | N/A | dbSNP | rs1714865 | Polymorphism | p.GLU56ALA | N/A | dbSNP | rs78113532 | Polymorphism | p.GLU289GLN | N/A | dbSNP | rs4985866 | Polymorphism | p.ILE249VAL | N/A | dbSNP | rs1612176 | Polymorphism | p.SER371ARG | N/A | dbSNP | rs1657738 | Polymorphism | p.SER15LEU | N/A | dbSNP | rs80335301 | Polymorphism | p.VAL297ILE | N/A | dbSNP | rs74880280 | Polymorphism | p.VAL36LEU | N/A | OMIM | 613236.0003 | Disease | p.ARG205HIS | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 | OMIM | 613236.0004 | Disease | p.LYS366ARG | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 | OMIM | 613236.0002 | Disease | p.THR354MET | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 |
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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