Mutations on the Protein: P08F94 From Positions: 2241 To 2444
Swiss-Prot Disease: VAR_066436 

p.CYS2422ARG

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_018563 

p.CYS2422GLY

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_066437 

p.GLU2431VAL

N/A
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N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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dbSNP Polymorphism: rs76260483 
Swiss-Prot Disease: VAR_014056 

p.ILE2331LYS

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_018562 

p.ILE2303PHE

N/A
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N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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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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