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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_002650 | Polymorphism | p.ARG398LEU | N/A | Swiss-Prot | VAR_017744 | Disease | p.CYS540TYR | Capillary malformation-arteriovenous malformation (CMAVM) | Swiss-Prot | VAR_002652 | Polymorphism | p.ILE401VAL | N/A | Swiss-Prot | VAR_002651 | Polymorphism | p.LYS400GLU | N/A | OMIM | 139150.0001 | Disease | p.ARG398LEU | BASAL CELL CARCINOMA, SOMATIC | OMIM | 139150.0006 | Disease | p.ARG285TER | CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION | OMIM | 139150.0005 | Disease | p.CYS540TYR | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION | OMIM | 139150.0003 | Disease | p.ILE401VAL | BASAL CELL CARCINOMA, SOMATIC | OMIM | 139150.0002 | Disease | p.LYS400GLY | BASAL CELL CARCINOMA, SOMATIC |
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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