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Known Diseases associated with this Protein: | CHOLESTASIS OF PREGNANCY, INTRAHEPATIC 3 (ICP3)
| CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
| CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (PFIC3)
| GALLBLADDER DISEASE 1
| GALLBLADDER DISEASE 1 (GBD1)
| GALLBLADDER DISEASE 1, INCLUDED
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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_023503 | Disease | p.ALA546ASP | Cholestasis of pregnancy, intrahepatic 3 (ICP3) | Swiss-Prot | VAR_043102 | Disease | p.ALA934THR | Gallbladder disease 1 (GBD1) | Swiss-Prot | VAR_043095 | Polymorphism | p.ARG590GLN | N/A | Swiss-Prot | VAR_024359 | Polymorphism | p.ARG788GLN | N/A | dbSNP | rs2230028 | Polymorphism | p.ARG652GLY | N/A | Swiss-Prot | VAR_043081 | Disease | p.ARG150LYS | Cholestasis of pregnancy, intrahepatic 3 (ICP3) | dbSNP | rs8187801 | Polymorphism | p.ARG788PRO | N/A | Swiss-Prot | VAR_043078 | Polymorphism | p.ASP87GLU | N/A | Swiss-Prot | VAR_043094 | Disease | p.ASP564GLY | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | dbSNP | rs8187797 | Polymorphism | p.GLU528ASP | N/A | Swiss-Prot | VAR_043086 | Disease | p.GLU395GLY | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_043089 | Polymorphism | p.GLU450GLY | N/A | Swiss-Prot | VAR_043091 | Disease | p.GLY535ASP | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_043099 | Disease | p.GLY762GLU | Cholestasis of pregnancy, intrahepatic 3 (ICP3) | Swiss-Prot | VAR_043098 | Polymorphism | p.GLY742SER | N/A | Swiss-Prot | VAR_043103 | Disease | p.GLY983SER | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_043100 | Polymorphism | p.ILE764LEU | N/A | Swiss-Prot | VAR_043092 | Disease | p.ILE541PHE | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_030763 | Polymorphism | p.ILE263VAL | N/A | Swiss-Prot | VAR_043085 | Polymorphism | p.ILE367VAL | N/A | Swiss-Prot | VAR_043093 | Disease | p.LEU556ARG | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_043104 | Polymorphism | p.LEU1082GLN | N/A | Swiss-Prot | VAR_043096 | Disease | p.LEU591GLN | Gallbladder disease 1 (GBD1) | Swiss-Prot | VAR_020223 | Polymorphism | p.LEU238VAL | N/A | Swiss-Prot | VAR_043083 | Disease | p.MET301THR | Gallbladder disease 1 (GBD1) | Swiss-Prot | VAR_043082 | Disease | p.PHE165ILE | Gallbladder disease 1 (GBD1) | Swiss-Prot | VAR_043097 | Disease | p.PHE711SER | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_023504 | Disease | p.PRO1168SER | Gallbladder disease 1 (GBD1) | Swiss-Prot | VAR_043079 | Polymorphism | p.PRO95SER | N/A | Swiss-Prot | VAR_043084 | Disease | p.SER346ILE | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_023502 | Disease | p.SER320PHE | Gallbladder disease 1 (GBD1) | Swiss-Prot | VAR_023501 | Polymorphism | p.THR175ALA | N/A | Swiss-Prot | VAR_043087 | Disease | p.THR424ALA | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_030765 | Polymorphism | p.THR651ASN | N/A | Swiss-Prot | VAR_043101 | Polymorphism | p.THR775MET | N/A | Swiss-Prot | VAR_043080 | Disease | p.TRP138ARG | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | Swiss-Prot | VAR_043088 | Disease | p.VAL425MET | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | 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.PRO1161SER | 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.
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