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Known Diseases associated with this Protein: | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2277257 | Polymorphism | p.ARG18GLY | N/A | dbSNP | rs780668 | Polymorphism | p.SER158PHE | N/A | dbSNP | rs77339410 | Polymorphism | p.TYR102HIS | N/A | dbSNP | rs2252996 | Polymorphism | p.VAL239ILE | N/A | OMIM | 612373.0010 | Disease | p.ARG365GLN | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0013 | Disease | p.ARG388GLN | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0011 | Disease | p.ARG365TRP | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0004 | Disease | p.GLU446TER | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0002 | Disease | p.GLY439ARG | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0001 | Disease | p.GLY429SER | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0006 | Disease | p.MET116ARG | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0009 | Disease | p.PHE103TER | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0014 | Disease | p.SER203PRO | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | OMIM | 612373.0007 | Disease | p.THR451ARG | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS 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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