|  | 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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| dbSNP | rs3817552 | Polymorphism | p.HIS481GLN | N/A | | Swiss-Prot | VAR_067045 | Disease | p.TRP211ARG | Arthrogryposis, distal, 1B (DA1B) | | Swiss-Prot | VAR_067046 | Disease | p.TYR849HIS | Arthrogryposis, distal, 1B (DA1B) | | OMIM | 160794.0003 | Disease | p.ARG318TER | LETHAL CONGENITAL CONTRACTURE SYNDROME 4 | | OMIM | 160794.0001 160794.0002 | Disease | p.TRP236ARG | ARTHROGRYPOSIS, DISTAL, TYPE 1B |
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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6166597
MYPC1_HUMAN RecName: Full=Myosin-binding protein C, slow-type; Short=Slow MyBP-C; AltName: Full=C-protein, skeletal muscle slow isoform
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