Mutations on the Protein: P42336 From Positions: 534 To 587
Swiss-Prot Polymorphism: VAR_026182 
Swiss-Prot Polymorphism: VAR_026179 
Swiss-Prot Polymorphism: VAR_026180 
Swiss-Prot Polymorphism: VAR_026181 
Swiss-Prot Polymorphism: VAR_026176 
Swiss-Prot Polymorphism: VAR_026174 
Swiss-Prot Disease: VAR_026177 

p.GLU545GLY

N/A
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N/A
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Keratosis, seborrheic (KERSEB)
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Swiss-Prot Disease: VAR_026173 

p.GLU542LYS

N/A
| |

N/A
|
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Keratosis, seborrheic (KERSEB)
|
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Swiss-Prot Disease: VAR_026178 

p.GLU545LYS

N/A
| |

N/A
|
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Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
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Swiss-Prot Polymorphism: VAR_026175 
OMIM Disease: 171834.0006 

p.GLN546GLU

N/A
| |

N/A
|
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BREAST CANCER, SOMATIC
|
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OMIM Disease: 171834.0005 

p.GLN546LYS

N/A
| |

N/A
|
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OVARIAN CANCER, EPITHELIAL, SOMATIC||COLORECTAL CANCER, SOMATIC, INCLUDED
|
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OMIM Disease: 171834.0008 

p.GLU545ALA

N/A
| |

N/A
|
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HEPATOCELLULAR CARCINOMA, SOMATIC
|
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OMIM Disease: 171834.0004 

p.GLU545GLY

N/A
| |

N/A
|
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COLORECTAL CANCER, SOMATIC||NEVUS, EPIDERMAL, SOMATIC, INCLUDED
|
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OMIM Disease: 171834.0009 

p.GLU542LYS

N/A
| |

N/A
|
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CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC
|
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OMIM Disease: 171834.0003 

p.GLU545LYS

N/A
| |

N/A
|
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BREAST CANCER, SOMATIC||OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;||COLORECTAL CANCER, SOMATIC, INCLUDED;;||GASTRIC
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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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