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Known Diseases associated with this Protein: | THYROID DYSHORMONOGENESIS 2A
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs4927611 | Polymorphism | p.ALA257SER | N/A | dbSNP | rs2280132 | Polymorphism | p.ALA373SER | N/A | dbSNP | rs1126797 | Polymorphism | p.ASP609GLU | N/A | dbSNP | rs114796303 | Polymorphism | p.LEU529PHE | N/A | dbSNP | rs28991293 | Polymorphism | p.LEU736PRO | N/A | dbSNP | rs13431173 | Polymorphism | p.MET649VAL | N/A | dbSNP | rs2175977 | Polymorphism | p.SER398THR | N/A | dbSNP | rs732609 | Polymorphism | p.THR668PRO | N/A | dbSNP | rs1126799 | Polymorphism | p.VAL790ALA | N/A | dbSNP | rs10189135 | Polymorphism | p.VAL561MET | N/A | OMIM | 606765.0009 | Disease | p.ARG591GLN | THYROID DYSHORMONOGENESIS 2A | OMIM | 606765.0012 | Disease | p.ARG636TRP | THYROID DYSHORMONOGENESIS 2A | OMIM | 606765.0014 | Disease | p.GLN603GLU | THYROID DYSHORMONOGENESIS 2A | OMIM | 606765.0007 | Disease | p.GLU742LYS | THYROID DYSHORMONOGENESIS 2A | OMIM | 606765.0004 | Disease | p.ILE447PHE | THYROID DYSHORMONOGENESIS 2A | OMIM | 606765.0005 | Disease | p.TYR453ASP | THYROID DYSHORMONOGENESIS 2A |
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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