Mutations on the Protein: P40337 From Positions: 128 To 138
Swiss-Prot Disease: VAR_005734 

p.ASN131LYS

N/A
| |

N/A
|
---|

Von Hippel-Lindau disease (VHLD)
|
---|
Swiss-Prot Disease: VAR_005735 

p.ASN131THR

N/A
| |

N/A
|
---|

Von Hippel-Lindau disease (VHLD)
|
---|
Swiss-Prot Disease: VAR_005731 

p.LEU128PHE

N/A
| |

N/A
|
---|

Von Hippel-Lindau disease (VHLD)
|
---|
Swiss-Prot Polymorphism: VAR_034995 
Swiss-Prot Disease: VAR_005737 

p.PHE136CYS

N/A
| |

N/A
|
---|

Von Hippel-Lindau disease (VHLD)
|
---|
Swiss-Prot Disease: VAR_005736 

p.PHE136SER

N/A
| |

N/A
|
---|

Von Hippel-Lindau disease (VHLD)
|
---|
Swiss-Prot Disease: VAR_008099 

p.PHE136TYR

N/A
| |

N/A
|
---|

Von Hippel-Lindau disease (VHLD)
|
---|
Swiss-Prot Disease: VAR_005733 

p.VAL130LEU

N/A
| |

N/A
|
---|

Von Hippel-Lindau disease (VHLD)
|
---|
OMIM Disease: 608537.0008 

p.LEU135PHE

N/A
| |

N/A
|
---|

HEMANGIOBLASTOMA, SPORADIC CEREBELLAR
|
---|
OMIM Disease: 608537.0021 

p.VAL130LEU

N/A
| |

N/A
|
---|

ERYTHROCYTOSIS, FAMILIAL, 2
|
---|
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 |
|