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Known Diseases associated with this Protein: |  EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS
| EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITHOUT INTRACELLULAR INCLUSIONS
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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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| 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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269784642
BTB/POZ domain-containing protein KCTD7 isoform 2 [Homo sapiens]
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