Mutations on the Protein: Q76LX8 From Positions: 214 To 285
Swiss-Prot Disease: VAR_027116 

p.ALA250VAL

N/A
| |

N/A
|
---|

Thrombotic thrombocytopenic purpura congenital (TTP)
|
---|
Swiss-Prot Disease: VAR_027117 

p.ARG268PRO

N/A
| |

N/A
|
---|

Thrombotic thrombocytopenic purpura congenital (TTP)
|
---|
Swiss-Prot Disease: VAR_067775 

p.ASP235HIS

N/A
| |

N/A
|
---|

Thrombotic thrombocytopenic purpura congenital (TTP)
|
---|
Swiss-Prot Disease: VAR_027115 

p.HIS234GLN

N/A
| |

N/A
|
---|

Thrombotic thrombocytopenic purpura congenital (TTP)
|
---|
Swiss-Prot Disease: VAR_067774 

p.LEU232GLN

N/A
| |

N/A
|
---|

Thrombotic thrombocytopenic purpura congenital (TTP)
|
---|
Swiss-Prot Disease: VAR_067776 

p.SER263CYS

N/A
| |

N/A
|
---|

Thrombotic thrombocytopenic purpura congenital (TTP)
|
---|
OMIM Disease: 604134.0020 

p.ALA250VAL

N/A
| |

N/A
|
---|

THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
|
---|
OMIM Disease: 604134.0014 

p.ARG268PRO

N/A
| |

N/A
|
---|

THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
|
---|
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 |
|