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Known Diseases associated with this Protein: |  INCLUSION BODY MYOPATHY 3
| INCLUSION BODY MYOPATHY 3 (IBM3)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| IQ | smart00015 | 0.00028 | 786 | 808 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_032633 | Polymorphism | p.ARG1927GLN | N/A | | Swiss-Prot | VAR_032630 | Disease | p.GLU706LYS | Inclusion body myopathy 3 (IBM3) | | Swiss-Prot | VAR_032632 | Polymorphism | p.LEU1061VAL | N/A | | dbSNP | rs61756677 | Polymorphism | p.VAL350GLY | N/A | | Swiss-Prot | VAR_032631 | Polymorphism | p.VAL970ILE | N/A | | OMIM | 160740.0001 | Disease | p.GLU706LYS | INCLUSION BODY MYOPATHY 3 |
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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13431716
MYH2_HUMAN RecName: Full=Myosin-2; AltName: Full=Myosin heavy chain 2; AltName: Full=Myosin heavy chain 2a; Short=MyHC-2a; AltName: Full=Myosin heavy chain IIa; Short=MyHC-IIa; AltName: Full=Myosin heavy chain, skeletal muscle, adult 2
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