Known Diseases associated with this Protein: |  MYOPATHY, CENTRONUCLEAR, 3
| MYOPATHY, CENTRONUCLEAR, 3 (CNM3)
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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_004493 | Disease | p.ALA90ASP | Myopathy, centronuclear, 3 (CNM3) | | Swiss-Prot | VAR_004494 | Disease | p.ALA112SER | Myopathy, centronuclear, 3 (CNM3) | | OMIM | 159991.0001 | Disease | p.ALA112SER | MYOPATHY, CENTRONUCLEAR, 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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127630
MYF6_HUMAN RecName: Full=Myogenic factor 6; Short=Myf-6; AltName: Full=Class C basic helix-loop-helix protein 4; Short=bHLHc4; AltName: Full=Muscle-specific regulatory factor 4
3
0
1
0
2
