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Known Diseases associated with this Protein: |  HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
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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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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs60140950 | Polymorphism | p.GLY256ALA | N/A | | Swiss-Prot | VAR_036410 | Polymorphism | p.ILE292MET | N/A | | dbSNP | rs7311358 | Polymorphism | p.MET233ILE | N/A | | Swiss-Prot | VAR_036411 | Polymorphism | p.MET647LEU | N/A | | dbSNP | rs4149117 | Polymorphism | p.SER112ALA | N/A | | dbSNP | rs57585902 | Polymorphism | p.THR147ALA | N/A | | Swiss-Prot | VAR_053673 | Polymorphism | p.VAL560ALA | N/A | | OMIM | 605495.0002 | Disease | p.ARG253TER | HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC |
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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27734563
SO1B3_HUMAN RecName: Full=Solute carrier organic anion transporter family member 1B3; AltName: Full=Liver-specific organic anion transporter 2; Short=LST-2; AltName: Full=Organic anion transporter 8; AltName: Full=Organic anion-transporting polypeptide 8; Short=OATP-8; AltName: Full=Solute carrier family 21 member 8
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