Mutations on the Protein: P08F94 From Positions: 1630 To 1833
Swiss-Prot Polymorphism: VAR_036231 
Swiss-Prot Polymorphism: VAR_066427 
Swiss-Prot Polymorphism: VAR_018550 
Swiss-Prot Disease: VAR_018553 

p.SER1833LEU

N/A
| |

N/A
|
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Disease: VAR_014052 

p.SER1664PHE

N/A
| |

N/A
|
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Polycystic kidney disease, autosomal recessive (ARPKD)
|
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Swiss-Prot Disease: VAR_018551 

p.THR1781ILE

N/A
| |

N/A
|
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Polycystic kidney disease, autosomal recessive (ARPKD)
|
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Swiss-Prot Disease: VAR_066428 

p.VAL1817GLY

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Disease: VAR_018552 

p.VAL1789LEU

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Disease: VAR_014053 

p.VAL1741MET

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
OMIM Disease: 606702.0002 

p.SER1664PHE

N/A
| |

N/A
|
---|

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
|
---|
OMIM Disease: 606702.0004 

p.VAL1741MET

N/A
| |

N/A
|
---|

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
|
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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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