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Known Diseases associated with this Protein: | COHEN SYNDROME
| COHEN SYNDROME (COH1)
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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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Swiss-Prot | VAR_058749 | Polymorphism | p.ALA829THR | N/A | dbSNP | rs75933366 | Polymorphism | p.ARG1416GLN | N/A | Swiss-Prot | VAR_038424 | Disease | p.ASN2993SER | Cohen syndrome (COH1) | dbSNP | rs6468694 | Polymorphism | p.GLY3432ARG | N/A | Swiss-Prot | VAR_038423 | Disease | p.GLY2645ASP | Cohen syndrome (COH1) | Swiss-Prot | VAR_058755 | Disease | p.ILE2820THR | Cohen syndrome (COH1) | Swiss-Prot | VAR_058753 | Polymorphism | p.ILE1994VAL | N/A | Swiss-Prot | VAR_017759 | Disease | p.LEU2193ARG | Cohen syndrome (COH1) | Swiss-Prot | VAR_036325 | Polymorphism | p.LEU3001VAL | N/A | Swiss-Prot | VAR_057750 | Polymorphism | p.PRO1138LEU | N/A | Swiss-Prot | VAR_058757 | Polymorphism | p.SER3142ARG | N/A | Swiss-Prot | VAR_058754 | Disease | p.SER2773LEU | Cohen syndrome (COH1) | Swiss-Prot | VAR_038422 | Disease | p.TYR2341CYS | Cohen syndrome (COH1) | Swiss-Prot | VAR_058756 | Polymorphism | p.TYR2822CYS | N/A | dbSNP | rs7833870 | Polymorphism | p.VAL2584ALA | N/A | Swiss-Prot | VAR_069429 | Polymorphism | p.VAL2481ILE | N/A | Swiss-Prot | VAR_058750 | Polymorphism | p.VAL866ILE | N/A | OMIM | 607817.0003 | Disease | p.ARG2351TER | COHEN SYNDROME | OMIM | 607817.0006 | Disease | p.ARG971TER | COHEN SYNDROME | OMIM | 607817.0004 | Disease | p.ASN2993SER | COHEN SYNDROME | OMIM | 607817.0008 | Disease | p.GLN3630TER | COHEN SYNDROME | OMIM | 607817.0005 | Disease | p.GLU1491TER | COHEN SYNDROME | OMIM | 607817.0007 | Disease | p.GLY2645ASP | COHEN SYNDROME | OMIM | 607817.0010 | Disease | p.ILE2820THR | COHEN SYNDROME | OMIM | 607817.0002 | Disease | p.LEU2193ARG | COHEN 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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