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Known Diseases associated with this Protein: |  OPITZ GBBB SYNDROME 1 (OGS1)
| OPITZ SYNDROME, X-LINKED
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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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| Swiss-Prot | VAR_013758 | Disease | p.CYS266ARG | Opitz GBBB syndrome 1 (OGS1) | | Swiss-Prot | VAR_013761 | Disease | p.ILE536THR | Opitz GBBB syndrome 1 (OGS1) | | Swiss-Prot | VAR_025495 | Disease | p.LEU295PRO | Opitz GBBB syndrome 1 (OGS1) | | Swiss-Prot | VAR_013762 | Disease | p.LEU626PRO | Opitz GBBB syndrome 1 (OGS1) | | OMIM | 300552.0005 | Disease | p.GLU115TER | OPITZ SYNDROME, X-LINKED | | OMIM | 300552.0009 | Disease | p.GLU238TER | OPITZ SYNDROME, X-LINKED | | OMIM | 300552.0007 | Disease | p.LEU295PRO | OPITZ SYNDROME, X-LINKED | | OMIM | 300552.0004 | Disease | p.LEU626PRO | OPITZ SYNDROME, X-LINKED |
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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22653810
TRI18_HUMAN RecName: Full=E3 ubiquitin-protein ligase Midline-1; AltName: Full=Midin; AltName: Full=Putative transcription factor XPRF; AltName: Full=RING finger protein 59; AltName: Full=RING finger protein Midline-1; AltName: Full=Tripartite motif-containing protein 18
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