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Known Diseases associated with this Protein: |  LEGIUS SYNDROME
| NEUROFIBROMATOSIS 1-LIKE SYNDROME (NFLS)
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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_064827 | Disease | p.TRP31CYS | Neurofibromatosis 1-like syndrome (NFLS) | | Swiss-Prot | VAR_064828 | Disease | p.VAL44ASP | Neurofibromatosis 1-like syndrome (NFLS) | | OMIM | 609291.0001 | Disease | p.ARG117TER | LEGIUS SYNDROME | | OMIM | 609291.0002 | Disease | p.ARG24TER | LEGIUS SYNDROME | | OMIM | 609291.0007 | Disease | p.ARG262TER | LEGIUS SYNDROME | | OMIM | 609291.0005 | Disease | p.ARG64TER | LEGIUS SYNDROME | | OMIM | 609291.0006 | Disease | p.GLN213TER | LEGIUS SYNDROME | | OMIM | 609291.0004 | Disease | p.GLN215TER | LEGIUS SYNDROME | | OMIM | 609291.0008 | Disease | p.VAL44ASP | LEGIUS 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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57013078
SPRE1_HUMAN RecName: Full=Sprouty-related, EVH1 domain-containing protein 1; Short=Spred-1; Short=hSpred1
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