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Known Diseases associated with this Protein: | CARDIOMYOPATHY, DILATED, 1D
| CARDIOMYOPATHY, DILATED, 1D, INCLUDED;;
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
| CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE
| LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs3730238 | Polymorphism | p.LYS253ARG | N/A | OMIM | 191045.0004 | Disease | p.ARG268CYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 | OMIM | 191045.0002 | Disease | p.ARG82GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 | OMIM | 191045.0009 | Disease | p.ARG195LEU | CARDIOMYOPATHY, DILATED, 1D | OMIM | 191045.0008 | Disease | p.ARG121TRP | CARDIOMYOPATHY, DILATED, 1D||LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED | OMIM | 191045.0007 | Disease | p.ARG131TRP | CARDIOMYOPATHY, DILATED, 1D | OMIM | 191045.0010 | Disease | p.ASP260ASN | CARDIOMYOPATHY, DILATED, 1D | OMIM | 191045.0001 | Disease | p.ILE69ASN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2||CARDIOMYOPATHY, DILATED, 1D, INCLUDED;;||CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE | OMIM | 191045.0005 | Disease | p.PHE100ILE | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 |
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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