Mutations on the Protein: P42336 From Positions: 1015 To 1068
Swiss-Prot Polymorphism: VAR_026187 
Swiss-Prot Polymorphism: VAR_026194 
Swiss-Prot Disease: VAR_069259 

p.GLY1049SER

N/A
| |

N/A
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Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
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Swiss-Prot Disease: VAR_026192 

p.HIS1047ARG

N/A
| |

N/A
|
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Keratosis, seborrheic (KERSEB)
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Swiss-Prot Polymorphism: VAR_026191 
Swiss-Prot Polymorphism: VAR_026196 
Swiss-Prot Disease: VAR_026193 

p.HIS1047TYR

N/A
| |

N/A
|
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Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
|
---|
Swiss-Prot Polymorphism: VAR_026197 
Swiss-Prot Disease: VAR_026190 

p.MET1043ILE

N/A
| |

N/A
|
---|

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
|
---|
Swiss-Prot Disease: VAR_069258 

p.THR1025ALA

N/A
| |

N/A
|
---|

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
|
---|
Swiss-Prot Polymorphism: VAR_026188 
Swiss-Prot Polymorphism: VAR_026195 
Swiss-Prot Polymorphism: VAR_026186 
Swiss-Prot Disease: VAR_026184 

p.TYR1021CYS

N/A
| |

N/A
|
---|

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
|
---|
Swiss-Prot Polymorphism: VAR_026185 
OMIM Disease: 171834.0001 

p.HIS1047ARG

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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OMIM Disease: 171834.0002 

p.HIS1047LEU

N/A
| |

N/A
|
---|

BREAST CANCER, SOMATIC||CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC, INCLUDED
|
---|
OMIM Disease: 171834.0013 

p.HIS1047TYR

N/A
| |

N/A
|
---|

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
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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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