|
|
|
|
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
| THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
OMIM | 191170.0032 | Disease | p.ALA99PRO | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0038 | Disease | p.ALA150VAL | COLORECTAL CANCER | OMIM | 191170.0010 | Disease | p.ARG209GLN | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0030 | Disease | p.ARG136HIS | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0020 | Disease | p.ARG234HIS | LI-FRAUMENI SYNDROME 1||THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED | OMIM | 191170.0035 | Disease | p.ARG298HIS | ADRENOCORTICAL CARCINOMA, PEDIATRIC | OMIM | 191170.0042 | Disease | p.ARG142LEU | GLIOMA SUSCEPTIBILITY 1 | OMIM | 191170.0006 | Disease | p.ARG210SER | HEPATOCELLULAR CARCINOMA, SOMATIC||CERVICAL CANCER, SOMATIC, INCLUDED | OMIM | 191170.0024 | Disease | p.ARG241THR | NASOPHARYNGEAL CARCINOMA, SOMATIC | OMIM | 191170.0001 | Disease | p.ARG209TRP | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0018 | Disease | p.ARG243TRP | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0008 | Disease | p.CYS203TYR | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0002 | Disease | p.GLU219LYS | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0040 | Disease | p.GLU246VAL | ADRENOCORTICAL CARCINOMA, PEDIATRIC||CHOROID PLEXUS CARCINOMA, INCLUDED | OMIM | 191170.0009 | Disease | p.GLY206ASP | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0003 | Disease | p.GLY206CYS | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0019 | Disease | p.GLY206SER | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0021 | Disease | p.GLY286VAL | NON-HODGKIN LYMPHOMA||COLON CANCER, INCLUDED | OMIM | 191170.0028 | Disease | p.LEU218GLN | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0031 | Disease | p.LEU305PRO | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0034 | Disease | p.LYS253ILE | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0017 | Disease | p.LYS81TER | LI-FRAUMENI-LIKE SYNDROME | OMIM | 191170.0011 | Disease | p.MET94THR | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0026 | Disease | p.PRO112SER | BREAST CANCER, SOMATIC | OMIM | 191170.0025 | Disease | p.PRO112THR | BREAST CANCER, SOMATIC | OMIM | 191170.0013 | Disease | p.SER202PHE | HEPATOBLASTOMA||OSTEOSARCOMA, INCLUDED | OMIM | 191170.0039 | Disease | p.TYR181SER | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0012 | Disease | p.VAL233LEU | LI-FRAUMENI SYNDROME 1 | OMIM | 191170.0007 | Disease | p.VAL118PHE | 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
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|