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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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| dbSNP | rs45578741 | Polymorphism | p.ARG106CYS | N/A | | Swiss-Prot | VAR_015397 | Disease | p.ARG87GLN | Cardiomyopathy, dilated 1N (CMD1N) | | Swiss-Prot | VAR_029448 | Disease | p.ARG153HIS | Cardiomyopathy, familial hypertrophic (CMH) | | Swiss-Prot | VAR_026650 | Disease | p.ARG70TRP | Cardiomyopathy, dilated 1N (CMD1N) | | Swiss-Prot | VAR_029446 | Disease | p.GLU132GLN | Cardiomyopathy, dilated 1N (CMD1N) | | Swiss-Prot | VAR_029445 | Polymorphism | p.LEU74HIS | N/A | | Swiss-Prot | VAR_026651 | Disease | p.PRO90LEU | Cardiomyopathy, dilated 1N (CMD1N) | | Swiss-Prot | VAR_029447 | Disease | p.THR137ILE | Cardiomyopathy, familial hypertrophic (CMH) | | OMIM | 604488.0003 | Disease | p.ARG87GLN | CARDIOMYOPATHY, DILATED, 1N | | OMIM | 604488.0001 | Disease | p.GLN53TER | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G |
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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3024716
TELT_HUMAN RecName: Full=Telethonin; AltName: Full=Titin cap protein
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