Mutations on the Protein: P08F94 From Positions: 1019 To 1222
Swiss-Prot Disease: VAR_018541 

p.ALA1030GLU

N/A
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N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Polymorphism: VAR_018544 
Swiss-Prot Polymorphism: VAR_036229 
Swiss-Prot Polymorphism: VAR_014047 
Swiss-Prot Disease: VAR_014046 

p.GLY1122SER

N/A
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N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Disease: VAR_018542 

p.GLY1123SER

N/A
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N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Polymorphism: VAR_036230 
Swiss-Prot Polymorphism: VAR_018543 
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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