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Known Diseases associated with this Protein: | DEBRISOQUINE, POOR METABOLISM OF
| DEBRISOQUINE, ULTRARAPID METABOLISM OF
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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 | 2.7e-136 | 34 | 443 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs1058172 | Polymorphism | p.ARG314HIS | N/A | dbSNP | rs16947 | Polymorphism | p.CYS245ARG | N/A | dbSNP | rs61736517 | Polymorphism | p.HIS301ARG | N/A | dbSNP | rs28371704 | Polymorphism | p.HIS94ARG | N/A | dbSNP | rs28371703 | Polymorphism | p.LEU91MET | N/A | dbSNP | rs17002853 | Polymorphism | p.LEU180PRO | N/A | dbSNP | rs61736514 | Polymorphism | p.LEU244VAL | N/A | dbSNP | rs1065852 | Polymorphism | p.PRO34SER | N/A | dbSNP | rs1135830 | Polymorphism | p.SER260LEU | N/A | dbSNP | rs28371706 | Polymorphism | p.THR107ILE | N/A | dbSNP | rs1135840 | Polymorphism | p.THR435SER | N/A | dbSNP | rs61745683 | Polymorphism | p.VAL319ILE | N/A | dbSNP | rs59421388 | Polymorphism | p.VAL287MET | N/A | OMIM | 124030.0007 | Disease | p.ARG245CYS | DEBRISOQUINE, ULTRARAPID METABOLISM OF | OMIM | 124030.0004 | Disease | p.GLY1TER | DEBRISOQUINE, POOR METABOLISM OF | OMIM | 124030.0005 | Disease | p.PRO34SER | DEBRISOQUINE, POOR METABOLISM OF | OMIM | 124030.0007 | Disease | p.SER435THR | DEBRISOQUINE, ULTRARAPID METABOLISM OF |
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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