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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_057891 | Polymorphism | p.ARG644CYS | N/A | Swiss-Prot | VAR_057889 | Polymorphism | p.ARG235GLN | N/A | Swiss-Prot | VAR_057890 | Polymorphism | p.ARG577GLN | N/A | Swiss-Prot | VAR_057892 | Polymorphism | p.ARG646GLN | N/A | Swiss-Prot | VAR_057887 | Polymorphism | p.ARG68HIS | N/A | Swiss-Prot | VAR_057894 | Polymorphism | p.ARG747HIS | N/A | Swiss-Prot | VAR_057893 | Polymorphism | p.ARG725TRP | N/A | Swiss-Prot | VAR_054551 | Polymorphism | p.GLU718ASP | N/A | Swiss-Prot | VAR_057888 | Polymorphism | p.GLY199ALA | N/A | Swiss-Prot | VAR_015989 | Polymorphism | p.GLY715GLU | N/A | Swiss-Prot | VAR_057886 | Polymorphism | p.PRO48ARG | N/A | Swiss-Prot | VAR_058426 | Polymorphism | p.SER719LEU | N/A | dbSNP | rs9820367 | Polymorphism | p.THR668SER | N/A | OMIM | 600570.0004 | Disease | p.ARG235GLN | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | OMIM | 600570.0005 | Disease | p.ARG577GLN | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 | OMIM | 600570.0003 | Disease | p.GLY715GLU | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
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.
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