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Known Diseases associated with this Protein: |  BLADDER CANCER, SOMATIC
| COSTELLO SYNDROME
| COSTELLO SYNDROME, INCLUDED;;
| COSTELLO SYNDROME, SEVERE
| EPIDERMAL NEVUS WITH UROTHELIAL CAN
| EPIDERMAL NEVUS, SOMATIC
| EPIDERMAL NEVUS, SOMATIC, INCLUDED
| 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, 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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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| 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
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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34222246
GTPase HRas isoform 2 [Homo sapiens]
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