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Known Diseases associated with this Protein: | BLADDER CANCER, SOMATIC, INCLUDED
| BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
| BREAST ADENOCARCINOMA, SOMATIC
| CARDIOFACIOCUTANEOUS SYNDROME 2
| CARDIOFACIOCUTANEOUS SYNDROME 2 (CFC2)
| EPIDERMAL NEVUS, SOMATIC, INCLUDED;;
| GASTRIC CANCER (GASC)
| GASTRIC CANCER, SOMATIC
| GASTRIC CANCER, SOMATIC, INCLUDED;;
| LUNG CANCER, SOMATIC
| LUNG CANCER, SQUAMOUS CELL, SOMATIC
| NEVUS SEBACEOU
| NEVUS SEBACEOUS, SOMATIC, INCLUDED
| NOONAN SYNDROME 3
| NOONAN SYNDROME 3 (NS3)
| PANCREATIC CARCINOMA, SOMATIC
| PILOCYTIC ASTROCYTOMA, SOMATIC
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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_036308 | Polymorphism | p.ALA146THR | N/A | Swiss-Prot | VAR_016030 | Disease | p.ALA59THR | Gastric cancer (GASC) | Swiss-Prot | VAR_064851 | Disease | p.GLN22ARG | Noonan syndrome 3 (NS3) | Swiss-Prot | VAR_036306 | Polymorphism | p.GLN61ARG | N/A | Swiss-Prot | VAR_064850 | Disease | p.GLN22GLU | Cardiofaciocutaneous syndrome 2 (CFC2) | Swiss-Prot | VAR_006841 | Polymorphism | p.GLN61HIS | N/A | Swiss-Prot | VAR_036305 | Polymorphism | p.GLY12ALA | N/A | Swiss-Prot | VAR_016027 | Polymorphism | p.GLY12ARG | N/A | Swiss-Prot | VAR_065145 | Polymorphism | p.GLY13ARG | N/A | Swiss-Prot | VAR_026112 | Disease | p.GLY60ARG | Cardiofaciocutaneous syndrome 2 (CFC2) | Swiss-Prot | VAR_016026 | Polymorphism | p.GLY12ASP | N/A | Swiss-Prot | VAR_016029 | Disease | p.GLY13ASP | Gastric cancer (GASC) | Swiss-Prot | VAR_006839 | Polymorphism | p.GLY12CYS | N/A | Swiss-Prot | VAR_016028 | Polymorphism | p.GLY12SER | N/A | Swiss-Prot | VAR_065146 | Disease | p.GLY60SER | Noonan syndrome 3 (NS3) | Swiss-Prot | VAR_006840 | Polymorphism | p.GLY12VAL | N/A | Swiss-Prot | VAR_064854 | Disease | p.ILE36MET | Noonan syndrome 3 (NS3) | Swiss-Prot | VAR_036307 | Polymorphism | p.LYS117ASN | N/A | Swiss-Prot | VAR_064849 | Disease | p.LYS5ASN | Gastric cancer (GASC) | Swiss-Prot | VAR_069785 | Disease | p.LYS147GLU | Cardiofaciocutaneous syndrome 2 (CFC2) | Swiss-Prot | VAR_065144 | Disease | p.LYS5GLU | Noonan syndrome 3 (NS3) | Swiss-Prot | VAR_026110 | Disease | p.PRO34ARG | Cardiofaciocutaneous syndrome 2 (CFC2) | Swiss-Prot | VAR_064853 | Disease | p.PRO34GLN | Noonan syndrome 3 (NS3) | Swiss-Prot | VAR_064852 | Disease | p.PRO34LEU | Noonan syndrome 3 (NS3) | Swiss-Prot | VAR_026111 | Disease | p.THR58ILE | Noonan syndrome 3 (NS3) | Swiss-Prot | VAR_069784 | Disease | p.TYR71HIS | Cardiofaciocutaneous syndrome 2 (CFC2) | Swiss-Prot | VAR_026109 | Disease | p.VAL14ILE | Noonan syndrome 3 (NS3) | OMIM | 190070.0004 | Disease | p.ALA59THR | BLADDER CANCER, TRANSITIONAL CELL, SOMATIC | OMIM | 190070.0010 190070.0015 | Disease | p.ASP153VAL | NOONAN SYNDROME 3 | OMIM | 190070.0002 | Disease | p.GLY12ARG | LUNG CANCER, SQUAMOUS CELL, SOMATIC||BLADDER CANCER, SOMATIC, INCLUDED | OMIM | 190070.0016 | Disease | p.GLY13ARG | PILOCYTIC ASTROCYTOMA, SOMATIC | OMIM | 190070.0009 | Disease | p.GLY60ARG | CARDIOFACIOCUTANEOUS SYNDROME 2 | OMIM | 190070.0005 | Disease | p.GLY12ASP | PANCREATIC CARCINOMA, SOMATIC||GASTRIC CANCER, SOMATIC, INCLUDED;;||EPIDERMAL NEVUS, SOMATIC, INCLUDED;;||NEVUS SEBACEOU | OMIM | 190070.0003 | Disease | p.GLY13ASP | BREAST ADENOCARCINOMA, SOMATIC | OMIM | 190070.0001 | Disease | p.GLY12CYS | LUNG CANCER, SOMATIC | OMIM | 190070.0007 | Disease | p.GLY12SER | GASTRIC CANCER, SOMATIC | OMIM | 190070.0020 | Disease | p.GLY60SER | NOONAN SYNDROME 3 | OMIM | 190070.0006 | Disease | p.GLY12VAL | PANCREATIC CARCINOMA, SOMATIC||NEVUS SEBACEOUS, SOMATIC, INCLUDED | OMIM | 190070.0017 | Disease | p.LYS5ASN | CARDIOFACIOCUTANEOUS SYNDROME 2 | OMIM | 190070.0022 | Disease | p.LYS147GLU | CARDIOFACIOCUTANEOUS SYNDROME 2 | OMIM | 190070.0019 | Disease | p.LYS5GLU | NOONAN SYNDROME 3 | OMIM | 190070.0018 | Disease | p.PHE156LEU | CARDIOFACIOCUTANEOUS SYNDROME 2 | OMIM | 190070.0013 | Disease | p.PRO34ARG | CARDIOFACIOCUTANEOUS SYNDROME 2 | OMIM | 190070.0011 | Disease | p.THR58ILE | NOONAN SYNDROME 3 | OMIM | 190070.0021 | Disease | p.TYR71HIS | CARDIOFACIOCUTANEOUS SYNDROME 2 | OMIM | 190070.0014 | Disease | p.VAL152GLY | NOONAN SYNDROME 3 | OMIM | 190070.0012 | Disease | p.VAL14ILE | NOONAN SYNDROME 3 |
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.
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