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Known Diseases associated with this Protein: | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
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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 | rs72552056 | Polymorphism | p.ARG1999CYS | N/A | dbSNP | rs3751664 | Polymorphism | p.ARG788CYS | N/A | dbSNP | rs58124832 | Polymorphism | p.ARG1865GLN | N/A | dbSNP | rs1054644 | Polymorphism | p.ARG2054HIS | N/A | dbSNP | rs1054645 | Polymorphism | p.ARG2071HIS | N/A | dbSNP | rs61747577 | Polymorphism | p.ARG603LYS | N/A | dbSNP | rs2745136 | Polymorphism | p.ASP1904GLU | N/A | dbSNP | rs3751886 | Polymorphism | p.GLU1968GLY | N/A | dbSNP | rs36117280 | Polymorphism | p.MET313VAL | N/A | dbSNP | rs61734410 | Polymorphism | p.PRO640LEU | N/A | dbSNP | rs4984636 | Polymorphism | p.VAL664ALA | N/A | dbSNP | rs61910722 | Polymorphism | p.VAL464GLY | N/A | OMIM | 607904.0006 | Disease | p.ALA876THR | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 | OMIM | 607904.0004 | Disease | p.ARG788CYS | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 | OMIM | 607904.0002 | Disease | p.GLU282LYS | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 | OMIM | 607904.0004 | Disease | p.GLY773ASP | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 | OMIM | 607904.0001 | Disease | p.PHE161LEU | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 | OMIM | 607904.0005 | Disease | p.PRO618LEU | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 | OMIM | 607904.0003 | Disease | p.VAL831MET | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 |
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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