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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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| BTB | smart00225 | 2.2e-11 | 48 | 142 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_068779 | Disease | p.ARG184CYS | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) | | Swiss-Prot | VAR_068775 | Polymorphism | p.ARG84TRP | N/A | | Swiss-Prot | VAR_068776 | Disease | p.ARG94TRP | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) | | Swiss-Prot | VAR_068780 | Disease | p.ASN273ILE | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) | | Swiss-Prot | VAR_068778 | Polymorphism | p.ASP115TYR | N/A | | Swiss-Prot | VAR_068777 | Disease | p.LEU108MET | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) | | OMIM | 611725.0002 | Disease | p.ARG184CYS | EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS | | OMIM | 611725.0001 | Disease | p.ARG99TER | EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITHOUT INTRACELLULAR INCLUSIONS | | OMIM | 611725.0003 | Disease | p.ARG94TRP | EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITHOUT INTRACELLULAR INCLUSIONS | | OMIM | 611725.0005 | Disease | p.ASN273ILE | EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITHOUT INTRACELLULAR INCLUSIONS | | OMIM | 611725.0006 | Disease | p.ASP115TYR | EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITHOUT INTRACELLULAR INCLUSIONS | | OMIM | 611725.0007 | Disease | p.LEU108MET | EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITHOUT INTRACELLULAR INCLUSIONS |
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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74732414
KCTD7_HUMAN RecName: Full=BTB/POZ domain-containing protein KCTD7
10
2
6
0
6
