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Known Diseases associated with this Protein: |  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 19 (CMH19)
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19
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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_048589 | Polymorphism | p.ASP284ASN | N/A | | Swiss-Prot | VAR_027945 | Polymorphism | p.ASP248GLY | N/A | | Swiss-Prot | VAR_027944 | Polymorphism | p.LEU8PHE | N/A | | Swiss-Prot | VAR_065476 | Disease | p.LYS82ARG | Cardiomyopathy, familial hypertrophic 19 (CMH19) | | dbSNP | rs12459238 | Polymorphism | p.VAL274ILE | N/A | | OMIM | 611414.0001 | Disease | p.LYS82ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19 |
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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116241279
CALR3_HUMAN RecName: Full=Calreticulin-3; AltName: Full=Calreticulin-2; AltName: Full=Calsperin; Flags: Precursor
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