Mutations on the Protein: O43520 From Positions: 250 To 313
Swiss-Prot Disease: VAR_043049 
p.GLY308ASP
N/A
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N/A
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Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
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Swiss-Prot Disease: VAR_008810 
p.GLY308VAL
N/A
| |
N/A
|
|---|
Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
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Swiss-Prot Disease: VAR_008809 
p.LEU288SER
N/A
| |
N/A
|
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Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
|
|---|
Swiss-Prot Polymorphism: VAR_043048 
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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