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Known Diseases associated with this Protein: | ADRENOCORTICAL CARCINOMA, PEDIATRIC
| BREAST CANCER, SOMATIC
| CERVICAL CANCER, SOMATIC, INCLUDED
| CHOROID PLEXUS CARCINOMA, INCLUDED
| COLON CANCER, INCLUDED
| COLORECTAL CANCER
| GLIOMA SUSCEPTIBILITY 1
| HEPATOBLASTOMA
| HEPATOCELLULAR CARCINOMA, SOMATIC
| LI-FRAUMENI SYNDROME 1
| LI-FRAUMENI-LIKE SYNDROME
| NASOPHARYNGEAL CARCINOMA, SOMATIC
| NON-HODGKIN LYMPHOMA
| OSTEOSARCOMA, INCLUDED
| PANCREATIC CANCER, SOMATIC
| THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED
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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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Default View:
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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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dbSNP | rs1042522 | Polymorphism | p.PRO72ARG | N/A | dbSNP | rs1800371 | Polymorphism | p.PRO47SER | N/A | OMIM | 191170.0032 | Disease | p.ALA138PRO | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0038 | Disease | p.ALA189VAL | COLORECTAL CANCER | OMIM | 191170.0010 | Disease | p.ARG248GLN | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0030 | Disease | p.ARG175HIS | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0020 | Disease | p.ARG273HIS | LI-FRAUMENI SYNDROME 1||THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED | OMIM | 191170.0035 | Disease | p.ARG357HIS | ADRENOCORTICAL CARCINOMA, PEDIATRIC | OMIM | 191170.0042 | Disease | p.ARG181LEU | GLIOMA SUSCEPTIBILITY 1 | OMIM | 191170.0006 | Disease | p.ARG249SER | HEPATOCELLULAR CARCINOMA, SOMATIC||CERVICAL CANCER, SOMATIC, INCLUDED | OMIM | 191170.0024 | Disease | p.ARG280THR | NASOPHARYNGEAL CARCINOMA, SOMATIC | OMIM | 191170.0001 | Disease | p.ARG248TRP | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0018 | Disease | p.ARG282TRP | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0008 | Disease | p.CYS242TYR | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0002 | Disease | p.GLU258LYS | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0040 | Disease | p.GLU285VAL | ADRENOCORTICAL CARCINOMA, PEDIATRIC||CHOROID PLEXUS CARCINOMA, INCLUDED | OMIM | 191170.0009 | Disease | p.GLY245ASP | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0003 | Disease | p.GLY245CYS | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0019 | Disease | p.GLY245SER | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0021 | Disease | p.GLY325VAL | NON-HODGKIN LYMPHOMA||COLON CANCER, INCLUDED | OMIM | 191170.0028 | Disease | p.LEU257GLN | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0027 | Disease | p.LEU35PHE | PANCREATIC CANCER, SOMATIC | OMIM | 191170.0031 | Disease | p.LEU364PRO | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0034 | Disease | p.LYS292ILE | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0017 | Disease | p.LYS120TER | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0011 | Disease | p.MET133THR | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0026 | Disease | p.PRO151SER | BREAST CANCER, SOMATIC | OMIM | 191170.0025 | Disease | p.PRO151THR | BREAST CANCER, SOMATIC | OMIM | 191170.0013 | Disease | p.SER241PHE | HEPATOBLASTOMA||OSTEOSARCOMA, INCLUDED | OMIM | 191170.0039 | Disease | p.TYR220SER | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0012 | Disease | p.VAL272LEU | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0007 | Disease | p.VAL157PHE | HEPATOCELLULAR CARCINOMA, 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
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