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Known Diseases associated with this Protein: | MIYOSHI MYOPATHY
| MIYOSHI MYOPATHY, INCLUDED
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, IN
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
| MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED;;
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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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dbSNP | rs34660230 | Polymorphism | p.ALA1090PRO | N/A | dbSNP | rs115279465 | Polymorphism | p.ALA382VAL | N/A | dbSNP | rs34211915 | Polymorphism | p.ARG1040GLN | N/A | dbSNP | rs61738567 | Polymorphism | p.ASP1477GLY | N/A | dbSNP | rs34671418 | Polymorphism | p.ILE852VAL | N/A | dbSNP | rs13407355 | Polymorphism | p.LEU221VAL | N/A | OMIM | 603009.0004 | Disease | p.ARG2042CYS | MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED | OMIM | 603009.0011 | Disease | p.ARG1046HIS | MIYOSHI MYOPATHY | OMIM | 603009.0012 | Disease | p.ARG1905TER | MIYOSHI MYOPATHY||MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED;;||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, IN | OMIM | 603009.0013 | Disease | p.ASP625TYR | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | OMIM | 603009.0001 | Disease | p.GLN605TER | MIYOSHI MYOPATHY | OMIM | 603009.0014 | Disease | p.GLU1734GLY | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | OMIM | 603009.0017 | Disease | p.GLY299ARG | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | OMIM | 603009.0015 | Disease | p.GLY519ARG | MIYOSHI MYOPATHY | OMIM | 603009.0018 | Disease | p.GLY299TRP | MIYOSHI MYOPATHY | OMIM | 603009.0003 | Disease | p.ILE1298VAL | MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED | OMIM | 603009.0007 | Disease | p.PRO791ARG | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY, INCLUDED | OMIM | 603009.0010 | Disease | p.TRP999CYS | MIYOSHI MYOPATHY | OMIM | 603009.0009 | Disease | p.VAL67ASP | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B |
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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