Mutations on the Protein: O43520 From Positions: 375 To 438
Swiss-Prot Polymorphism: VAR_043051 
Swiss-Prot Disease: VAR_043054 

p.ARG412PRO

N/A
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N/A
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Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
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Swiss-Prot Polymorphism: VAR_043055 
Swiss-Prot Polymorphism: VAR_043052 
Swiss-Prot Disease: VAR_043053 

p.SER403TYR

N/A
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N/A
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Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
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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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