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Known Diseases associated with this Protein: |  MEPHENYTOIN, POOR METABOLISM OF
| PROGUANIL, POOR METABOLISM OF, 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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| p450 | pfam00067 | 3.8e-226 | 30 | 487 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs17884712 | Polymorphism | p.ARG144HIS | N/A | | dbSNP | rs17878459 | Polymorphism | p.GLU92ASP | N/A | | dbSNP | rs3758581 | Polymorphism | p.VAL331ILE | N/A | | OMIM | 124020.0002 | Disease | p.ARG433TRP | MEPHENYTOIN, POOR METABOLISM OF | | OMIM | 124020.0003 | Disease | p.TRP212TER | MEPHENYTOIN, POOR METABOLISM OF||PROGUANIL, POOR METABOLISM OF, INCLUDED |
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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4503219
cytochrome P450 2C19 precursor [Homo sapiens]
2
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