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Known Diseases associated with this Protein: | HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | 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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