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Known Diseases associated with this Protein: |  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 8 (CMH8)
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
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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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| FRQ1 | COG5126 | 9.1e-27 | 30 | 195 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_004600 | Disease | p.ARG154HIS | Cardiomyopathy, familial hypertrophic 8 (CMH8) | | Swiss-Prot | VAR_019842 | Disease | p.GLU56GLY | Cardiomyopathy, familial hypertrophic 8 (CMH8) | | Swiss-Prot | VAR_019843 | Disease | p.GLU143LYS | Cardiomyopathy, familial hypertrophic 8 (CMH8) | | Swiss-Prot | VAR_004599 | Disease | p.MET149VAL | Cardiomyopathy, familial hypertrophic 8 (CMH8) | | OMIM | 160790.0002 | Disease | p.ARG154HIS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 | | OMIM | 160790.0003 | Disease | p.GLU143LYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 | | OMIM | 160790.0001 | Disease | p.MET149VAL | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 |
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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127149
MYL3_HUMAN RecName: Full=Myosin light chain 3; AltName: Full=Cardiac myosin light chain 1; Short=CMLC1; AltName: Full=Myosin light chain 1, slow-twitch muscle B/ventricular isoform; Short=MLC1SB; AltName: Full=Ventricular/slow twitch myosin alkali light chain
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