Mutations on the Protein: P08F94 From Positions: 3056 To 3259
Swiss-Prot Disease: VAR_066444 

p.ALA3207THR

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Polymorphism: VAR_018575 
Swiss-Prot Polymorphism: VAR_018580 
Swiss-Prot Polymorphism: VAR_018578 
Swiss-Prot Disease: VAR_018582 

p.ASN3175ASP

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Disease: VAR_018583 

p.ASN3175SER

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Polymorphism: VAR_018577 
Swiss-Prot Polymorphism: VAR_014060 
Swiss-Prot Disease: VAR_018579 

p.HIS3124TYR

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Disease: VAR_018581 

p.ILE3167LEU

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Disease: VAR_018584 

p.ILE3177THR

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Disease: VAR_018576 

p.ILE3081VAL

N/A
| |

N/A
|
---|

Polycystic kidney disease, autosomal recessive (ARPKD)
|
---|
Swiss-Prot Polymorphism: VAR_066445 
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 |
|