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Known Diseases associated with this Protein: |  LIMB-GIRDLE MUSCULAR DYSTROPHY 1E (LGMD1E)
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_067833 | Disease | p.PHE89ILE | Limb-girdle muscular dystrophy 1E (LGMD1E) | | Swiss-Prot | VAR_067834 | Disease | p.PHE93LEU | Limb-girdle muscular dystrophy 1E (LGMD1E) | | Swiss-Prot | VAR_067835 | Disease | p.PRO96ARG | Limb-girdle muscular dystrophy 1E (LGMD1E) | | OMIM | 611332.0005 | Disease | p.PHE89ILE | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E | | OMIM | 611332.0002 | Disease | p.PRO96ARG | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E |
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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19855067
DNJB6_HUMAN RecName: Full=DnaJ homolog subfamily B member 6; AltName: Full=HHDJ1; AltName: Full=Heat shock protein J2; Short=HSJ-2; AltName: Full=MRJ; AltName: Full=MSJ-1
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