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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs1126728 | Polymorphism | p.ARG221CYS | N/A | Swiss-Prot | VAR_069219 | Disease | p.GLY121ARG | Congenital disorder of glycosylation 1T (CDG1T) | dbSNP | rs855314 | Polymorphism | p.ILE88VAL | N/A | Swiss-Prot | VAR_006090 | Polymorphism | p.LYS68MET | N/A | Swiss-Prot | VAR_062280 | Disease | p.THR115ALA | Glycogen storage disease 14 (GSD14) | dbSNP | rs11208257 | Polymorphism | p.TYR420HIS | N/A | dbSNP | rs6676290 | Polymorphism | p.VAL501ILE | N/A | OMIM | 171900.0004 | Disease | p.ARG485TER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It | OMIM | 171900.0003 | Disease | p.GLY103ARG | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It | OMIM | 171900.0001 | Disease | p.THR97ALA | GLYCOGEN STORAGE DISEASE XIV |
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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