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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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Swiss-Prot | VAR_030395 | Disease | p.ALA926PRO | Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) | Swiss-Prot | VAR_030392 | Disease | p.ALA570THR | Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) | Swiss-Prot | VAR_035353 | Polymorphism | p.ALA865VAL | N/A | Swiss-Prot | VAR_030396 | Disease | p.ARG1050CYS | Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) | Swiss-Prot | VAR_013338 | Disease | p.ARG1153CYS | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | Swiss-Prot | VAR_013339 | Disease | p.ARG1268GLN | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | Swiss-Prot | VAR_043074 | Polymorphism | p.ARG415GLN | N/A | Swiss-Prot | VAR_035354 | Polymorphism | p.ARG958GLN | N/A | Swiss-Prot | VAR_035350 | Polymorphism | p.ARG616GLY | N/A | Swiss-Prot | VAR_030397 | Disease | p.ARG1128HIS | Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) | Swiss-Prot | VAR_035352 | Polymorphism | p.ARG698HIS | N/A | Swiss-Prot | VAR_030389 | Polymorphism | p.ARG299LYS | N/A | Swiss-Prot | VAR_030391 | Disease | p.ARG432THR | Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) | dbSNP | rs11568367 | Polymorphism | p.ASN591SER | N/A | Swiss-Prot | VAR_013335 | Disease | p.ASP482GLY | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | Swiss-Prot | VAR_043076 | Polymorphism | p.ASP676TYR | N/A | Swiss-Prot | VAR_030390 | Disease | p.CYS336SER | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | Swiss-Prot | VAR_030386 | Disease | p.GLU186GLY | Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) | Swiss-Prot | VAR_010271 | Disease | p.GLU297GLY | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | dbSNP | rs1521808 | Polymorphism | p.GLU1186LYS | N/A | Swiss-Prot | VAR_043077 | Polymorphism | p.GLY855ARG | N/A | Swiss-Prot | VAR_013336 | Disease | p.GLY982ARG | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | Swiss-Prot | VAR_013337 | Disease | p.GLY1004ASP | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | Swiss-Prot | VAR_030388 | Disease | p.GLY238VAL | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | dbSNP | rs11568357 | Polymorphism | p.ILE206VAL | N/A | Swiss-Prot | VAR_013334 | Disease | p.LYS461GLU | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | dbSNP | rs11568364 | Polymorphism | p.MET677LEU | N/A | Swiss-Prot | VAR_030393 | Polymorphism | p.MET677VAL | N/A | Swiss-Prot | VAR_055472 | Polymorphism | p.SER56LEU | N/A | Swiss-Prot | VAR_035351 | Polymorphism | p.THR619ALA | N/A | Swiss-Prot | VAR_030394 | Disease | p.THR923PRO | Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) | Swiss-Prot | VAR_035349 | Polymorphism | p.VAL284ALA | N/A | Swiss-Prot | VAR_013333 | Polymorphism | p.VAL444ALA | N/A | Swiss-Prot | VAR_059106 | Polymorphism | p.VAL444ASP | N/A | dbSNP | rs2287622 | Polymorphism | p.VAL444GLY | N/A | Swiss-Prot | VAR_013332 | Disease | p.VAL284LEU | Cholestasis, progressive familial intrahepatic, 2 (PFIC2) | OMIM | 603201.0007 | Disease | p.ARG1057TER | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2 | OMIM | 603201.0001 | Disease | p.ARG575TER | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2 | OMIM | 603201.0006 | Disease | p.ARG432THR | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2 | OMIM | 603201.0002 | Disease | p.GLU297GLY | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2, 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.
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