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Known Diseases associated with this Protein: | MYASTHENIA, LIMB-GIRDLE, FAMILIAL (LGM)
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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_068728 | Polymorphism | p.ALA375SER | N/A | Swiss-Prot | VAR_068738 | Polymorphism | p.ALA1514THR | N/A | Swiss-Prot | VAR_068740 | Polymorphism | p.ARG1671GLN | N/A | Swiss-Prot | VAR_068743 | Polymorphism | p.ARG1734HIS | N/A | Swiss-Prot | VAR_068741 | Polymorphism | p.ARG1698PRO | N/A | Swiss-Prot | VAR_068726 | Polymorphism | p.ASN105ILE | N/A | Swiss-Prot | VAR_068744 | Polymorphism | p.ASP1789ASN | N/A | Swiss-Prot | VAR_068725 | Polymorphism | p.ASP58ASN | N/A | Swiss-Prot | VAR_068734 | Polymorphism | p.GLN1135ARG | N/A | Swiss-Prot | VAR_068730 | Polymorphism | p.GLN852ARG | N/A | Swiss-Prot | VAR_068739 | Polymorphism | p.GLN1565HIS | N/A | Swiss-Prot | VAR_068729 | Polymorphism | p.GLU728VAL | N/A | Swiss-Prot | VAR_068736 | Polymorphism | p.GLY1341ARG | N/A | Swiss-Prot | VAR_068742 | Disease | p.GLY1709ARG | Myasthenia, limb-girdle, familial (LGM) | Swiss-Prot | VAR_068745 | Polymorphism | p.GLY2045VAL | N/A | Swiss-Prot | VAR_068732 | Polymorphism | p.LEU1088PHE | N/A | Swiss-Prot | VAR_068735 | Polymorphism | p.PRO1240LEU | N/A | Swiss-Prot | VAR_068737 | Polymorphism | p.PRO1451LEU | N/A | Swiss-Prot | VAR_068733 | Polymorphism | p.THR1118LYS | N/A | Swiss-Prot | VAR_068727 | Polymorphism | p.THR267MET | N/A | Swiss-Prot | VAR_048966 | Polymorphism | p.VAL1666ILE | N/A | Swiss-Prot | VAR_068724 | Polymorphism | p.VAL23LEU | N/A | Swiss-Prot | VAR_068731 | Polymorphism | p.VAL984MET | N/A | Swiss-Prot | VAR_069066 | Disease | p.VAL1727PHE | Myasthenia, limb-girdle, familial (LGM) |
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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