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Known Diseases associated with this Protein: | COLORECTAL CANCER, SOMATIC
| DESMOID TUMOR, SOMATIC, INCLUDED
| HEPATOBLASTOMA, SOMATIC
| HEPATOCELLULAR CARCINOMA, SOMATIC
| MEDULLOBLASTOMA (MDB)
| MEDULLOBLASTOMA, SOMATIC, INCLUDED
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
| OVARIAN CANCER, SOMATIC
| PILOMATRICOMA, SOMATIC
| PILOMATRICOMA, SOMATIC, INCLUDED
| PILOMATRIXOMA (PTR)
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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_017614 | Polymorphism | p.ASP32ALA | N/A | Swiss-Prot | VAR_017615 | Disease | p.ASP32GLY | Pilomatrixoma (PTR) | Swiss-Prot | VAR_017616 | Disease | p.ASP32TYR | Pilomatrixoma (PTR) | Swiss-Prot | VAR_017621 | Polymorphism | p.GLY34ARG | N/A | Swiss-Prot | VAR_017620 | Disease | p.GLY34GLU | Pilomatrixoma (PTR) | Swiss-Prot | VAR_017622 | Polymorphism | p.GLY34VAL | N/A | Swiss-Prot | VAR_017623 | Polymorphism | p.ILE35SER | N/A | Swiss-Prot | VAR_018954 | Polymorphism | p.MET688VAL | N/A | Swiss-Prot | VAR_017624 | Disease | p.SER37ALA | Medulloblastoma (MDB) | Swiss-Prot | VAR_017612 | Polymorphism | p.SER23ARG | N/A | Swiss-Prot | VAR_017625 | Disease | p.SER37CYS | Pilomatrixoma (PTR) | Swiss-Prot | VAR_017618 | Polymorphism | p.SER33LEU | N/A | Swiss-Prot | VAR_017617 | Disease | p.SER33PHE | Pilomatrixoma (PTR) | Swiss-Prot | VAR_017626 | Disease | p.SER37PHE | Pilomatrixoma (PTR) | Swiss-Prot | VAR_017631 | Polymorphism | p.SER45PHE | N/A | Swiss-Prot | VAR_017632 | Polymorphism | p.SER45PRO | N/A | Swiss-Prot | VAR_017619 | Disease | p.SER33TYR | Pilomatrixoma (PTR) | Swiss-Prot | VAR_017627 | Polymorphism | p.SER37TYR | N/A | Swiss-Prot | VAR_017629 | Polymorphism | p.THR41ALA | N/A | Swiss-Prot | VAR_017630 | Disease | p.THR41ILE | Pilomatrixoma (PTR) | OMIM | 116806.0018 | Disease | p.ARG515TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 | OMIM | 116806.0006 | Disease | p.ASP32GLY | PILOMATRICOMA, SOMATIC | OMIM | 116806.0004 116806.0016 | Disease | p.ASP32TYR | PILOMATRICOMA, SOMATIC | OMIM | 116806.0019 | Disease | p.GLN309TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 | OMIM | 116806.0008 | Disease | p.GLY34GLU | PILOMATRICOMA, SOMATIC | OMIM | 116806.0005 | Disease | p.GLY34VAL | HEPATOBLASTOMA, SOMATIC | OMIM | 116806.0009 116806.0012 | Disease | p.SER37CYS | OVARIAN CANCER, SOMATIC | OMIM | 116806.0007 | Disease | p.SER33PHE | PILOMATRICOMA, SOMATIC||MEDULLOBLASTOMA, SOMATIC, INCLUDED | OMIM | 116806.0010 | Disease | p.SER37PHE | PILOMATRICOMA, SOMATIC | OMIM | 116806.0013 | Disease | p.SER45PHE | HEPATOCELLULAR CARCINOMA, SOMATIC | OMIM | 116806.0014 | Disease | p.SER45PRO | HEPATOCELLULAR CARCINOMA, SOMATIC | OMIM | 116806.0002 | Disease | p.SER33TYR | COLORECTAL CANCER, SOMATIC||PILOMATRICOMA, SOMATIC, INCLUDED | OMIM | 116806.0003 | Disease | p.THR41ALA | HEPATOBLASTOMA, SOMATIC||DESMOID TUMOR, SOMATIC, INCLUDED | OMIM | 116806.0011 | Disease | p.THR41ILE | PILOMATRICOMA, SOMATIC |
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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