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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_013135 | Disease | p.ALA63VAL | Cardiomyopathy, familial hypertrophic 3 (CMH3) | | Swiss-Prot | VAR_007601 | Disease | p.ASP175ASN | Cardiomyopathy, familial hypertrophic 3 (CMH3) | | Swiss-Prot | VAR_007602 | Disease | p.GLU180GLY | Cardiomyopathy, familial hypertrophic 3 (CMH3) | | Swiss-Prot | VAR_070121 | Disease | p.GLU192LYS | Left ventricular non-compaction 9 (LVNC9) | | Swiss-Prot | VAR_043986 | Disease | p.GLU40LYS | Cardiomyopathy, dilated 1Y (CMD1Y) | | Swiss-Prot | VAR_043987 | Disease | p.GLU54LYS | Cardiomyopathy, dilated 1Y (CMD1Y) | | Swiss-Prot | VAR_029452 | Disease | p.GLU180VAL | Cardiomyopathy, familial hypertrophic 3 (CMH3) | | Swiss-Prot | VAR_070122 | Disease | p.LYS248GLU | Left ventricular non-compaction 9 (LVNC9) | | OMIM | 191010.0002 | Disease | p.ASP175ASN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 | | OMIM | 191010.0001 | Disease | p.GLU180GLY | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 | | OMIM | 191010.0007 | Disease | p.GLU192LYS | LEFT VENTRICULAR NONCOMPACTION 9 | | OMIM | 191010.0006 | Disease | p.LYS248GLU | LEFT VENTRICULAR NONCOMPACTION 9 | | OMIM | 191010.0003 | Disease | p.VAL95ALA | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 |
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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136092
TPM1_HUMAN RecName: Full=Tropomyosin alpha-1 chain; AltName: Full=Alpha-tropomyosin; AltName: Full=Tropomyosin-1
13
0
5
0
8
