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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_002395 | Polymorphism | p.ARG38ASN | N/A | Swiss-Prot | VAR_002392 | Polymorphism | p.ARG35CYS | N/A | Swiss-Prot | VAR_002401 | Polymorphism | p.ARG573CYS | N/A | Swiss-Prot | VAR_002397 | Polymorphism | p.ARG38GLY | N/A | Swiss-Prot | VAR_002393 | Polymorphism | p.ARG35HIS | N/A | Swiss-Prot | VAR_010732 | Disease | p.ARG573LEU | Amyloidosis 8 (AMYL8) | Swiss-Prot | VAR_002399 | Polymorphism | p.ARG160SER | N/A | Swiss-Prot | VAR_002396 | Polymorphism | p.ARG38SER | N/A | Swiss-Prot | VAR_002390 | Polymorphism | p.ASP26ASN | N/A | Swiss-Prot | VAR_010731 | Disease | p.GLU545VAL | Amyloidosis 8 (AMYL8) | Swiss-Prot | VAR_002391 | Polymorphism | p.GLY31VAL | N/A | dbSNP | rs2070025 | Polymorphism | p.ILE6VAL | N/A | Swiss-Prot | VAR_014168 | Polymorphism | p.LYS446GLU | N/A | Swiss-Prot | VAR_002394 | Polymorphism | p.PRO37LEU | N/A | Swiss-Prot | VAR_002400 | Polymorphism | p.SER453ASN | N/A | Swiss-Prot | VAR_002398 | Polymorphism | p.SER66THR | N/A | dbSNP | rs6050 | Polymorphism | p.THR331ALA | N/A | Swiss-Prot | VAR_011611 | Polymorphism | p.THR456ALA | N/A | Swiss-Prot | VAR_010730 | Polymorphism | p.VAL39ASP | N/A | OMIM | 134820.0005 | Disease | p.ARG19ASN | FIBRINOGEN MUNICH 1 | OMIM | 134820.0003 | Disease | p.ARG16CYS | FIBRINOGEN BERGAMO 1||FIBRINOGEN HERSHEY 2;;||FIBRINOGEN HOMBURG 2;;||FIBRINOGEN HOMBURG 3;;||FIBRINOGEN KAWAGUCHI 1;;|| | OMIM | 134820.0014 | Disease | p.ARG554CYS | FIBRINOGEN DUSART||FIBRINOGEN PARIS 5 | OMIM | 134820.0007 | Disease | p.ARG19GLY | FIBRINOGEN AARHUS 1 | OMIM | 134820.0004 | Disease | p.ARG16HIS | FIBRINOGEN AMIENS 1||FIBRINOGEN AMIENS 2;;||FIBRINOGEN BERGAMO 3;;||FIBRINOGEN BERN 2;;||FIBRINOGEN BICETRE 1;;||FIBRINO | OMIM | 134820.0012 | Disease | p.ARG554LEU | AMYLOIDOSIS, FAMILIAL VISCERAL | OMIM | 134820.0010 | Disease | p.ARG141SER | FIBRINOGEN LIMA | OMIM | 134820.0006 | Disease | p.ARG19SER | FIBRINOGEN DETROIT 1 | OMIM | 134820.0001 | Disease | p.ASP7ASN | FIBRINOGEN LILLE 1 | OMIM | 134820.0024 | Disease | p.GLN328TER | FIBRINOGEN KEOKUK | OMIM | 134820.0013 | Disease | p.GLU526VAL | AMYLOIDOSIS, FAMILIAL VISCERAL | OMIM | 134820.0002 | Disease | p.GLY12VAL | FIBRINOGEN ROUEN 1 | OMIM | 134820.0011 | Disease | p.LYS461TER | FIBRINOGEN MARBURG||DYSFIBRINOGENEMIA CAUSING BLEEDING DIATHESIS | OMIM | 134820.0008 | Disease | p.PRO18LEU | FIBRINOGEN KYOTO 2 | OMIM | 134820.0009 | Disease | p.SER434ASN | FIBRINOGEN CARACAS-2 | OMIM | 134820.0026 | Disease | p.THR312ALA | VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO | OMIM | 134820.0015 | Disease | p.VAL20ASP | FIBRINOGEN CANTERBURY |
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.
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