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Known Diseases associated with this Protein: | BLADDER CANCER, SOMATIC
| CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES (CMEMS)
| COSTELLO SYNDROME
| COSTELLO SYNDROME, INCLUDED;;
| COSTELLO SYNDROME, SEVERE
| EPIDERMAL NEVUS WITH UROTHELIAL CAN
| EPIDERMAL NEVUS, SOMATIC
| EPIDERMAL NEVUS, SOMATIC, INCLUDED
| FACIOCUTANEOSKELETAL SYNDROME (FCSS)
| MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
| MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;;
| NEVUS SEBACEOUS, SOMATIC
| NEVUS SEBACEOUS, SOMATIC, INCLUDED
| NEVUS SEBACEOUS, SOMATIC, INCLUDED;;
| SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (SFM)
| SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, INCLUDED;;
| SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
| THYROID CARCINOMA, FOLLICULAR, 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_045982 | Disease | p.ALA146THR | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_045983 | Disease | p.ALA146VAL | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_006838 | Polymorphism | p.GLN61LEU | N/A | Swiss-Prot | VAR_045977 | Disease | p.GLN22LYS | Congenital myopathy with excess of muscle spindles (CMEMS) | Swiss-Prot | VAR_045979 | Polymorphism | p.GLN61LYS | N/A | Swiss-Prot | VAR_045980 | Disease | p.GLU63LYS | Congenital myopathy with excess of muscle spindles (CMEMS) | Swiss-Prot | VAR_026106 | Disease | p.GLY12ALA | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_068817 | Disease | p.GLY13ARG | Schimmelpenning-Feuerstein-Mims syndrome (SFM) | Swiss-Prot | VAR_068816 | Disease | p.GLY12ASP | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_026108 | Disease | p.GLY13ASP | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_045975 | Disease | p.GLY12CYS | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_026107 | Disease | p.GLY13CYS | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_045976 | Disease | p.GLY12GLU | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_006837 | Disease | p.GLY12SER | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_006836 | Disease | p.GLY12VAL | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_045981 | Disease | p.LYS117ARG | Faciocutaneoskeletal syndrome (FCSS) | Swiss-Prot | VAR_045978 | Disease | p.THR58ILE | Faciocutaneoskeletal syndrome (FCSS) | OMIM | 190020.0008 | Disease | p.ALA146THR | COSTELLO SYNDROME | OMIM | 190020.0012 | Disease | p.ALA146VAL | COSTELLO SYNDROME | OMIM | 190020.0010 | Disease | p.GLN22LYS | MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES | OMIM | 190020.0002 | Disease | p.GLN61LYS | THYROID CARCINOMA, FOLLICULAR, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED | OMIM | 190020.0009 | Disease | p.GLU63LYS | MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES | OMIM | 190020.0004 | Disease | p.GLY12ALA | COSTELLO SYNDROME | OMIM | 190020.0017 | Disease | p.GLY13ARG | NEVUS SEBACEOUS, SOMATIC||SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, INCLUDED;;||EPIDERMAL NEVUS, SOMATIC | OMIM | 190020.0013 | Disease | p.GLY12ASP | COSTELLO SYNDROME, SEVERE||NEVUS SEBACEOUS, SOMATIC, INCLUDED | OMIM | 190020.0005 | Disease | p.GLY13ASP | COSTELLO SYNDROME | OMIM | 190020.0014 | Disease | p.GLY12CYS | COSTELLO SYNDROME||NEVUS SEBACEOUS, SOMATIC, INCLUDED;;||EPIDERMAL NEVUS, SOMATIC, INCLUDED | OMIM | 190020.0007 | Disease | p.GLY13CYS | COSTELLO SYNDROME | OMIM | 190020.0003 | Disease | p.GLY12SER | COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;;||EPIDERMAL NEVUS WITH UROTHELIAL CAN | OMIM | 190020.0001 | Disease | p.GLY12VAL | BLADDER CANCER, SOMATIC||COSTELLO SYNDROME, INCLUDED;;||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;; | OMIM | 190020.0006 | Disease | p.LYS117ARG | COSTELLO SYNDROME | OMIM | 190020.0011 | Disease | p.THR58ILE | COSTELLO SYNDROME |
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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