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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2230028 | Polymorphism | p.ARG652GLY | N/A | dbSNP | rs8187801 | Polymorphism | p.ARG788PRO | N/A | dbSNP | rs8187797 | Polymorphism | p.GLU528ASP | N/A | OMIM | 171060.0004 | Disease | p.ALA546ASP | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3 | OMIM | 171060.0012 | Disease | p.ARG590GLN | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3||GALLBLADDER DISEASE 1, INCLUDED | OMIM | 171060.0013 | Disease | p.ARG545GLY | GALLBLADDER DISEASE 1 | OMIM | 171060.0011 | Disease | p.ARG144TER | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3 | OMIM | 171060.0002 | Disease | p.ARG957TER | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED | OMIM | 171060.0007 | Disease | p.PRO1154SER | GALLBLADDER DISEASE 1 | OMIM | 171060.0005 | Disease | p.SER320PHE | GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED | OMIM | 171060.0006 | Disease | p.THR175VAL | GALLBLADDER DISEASE 1 | OMIM | 171060.0010 | Disease | p.TYR403HIS | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3 |
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
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