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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_063216 | Disease | p.ALA1094VAL | Hemolytic uremic syndrome atypical 5 (AHUS5) | Swiss-Prot | VAR_001986 | Disease | p.ARG1320GLN | Complement component 3 deficiency (C3D) | Swiss-Prot | VAR_063213 | Disease | p.ARG592GLN | Hemolytic uremic syndrome atypical 5 (AHUS5) | dbSNP | rs2230199 | Polymorphism | p.ARG102GLY | N/A | Swiss-Prot | VAR_063655 | Disease | p.ARG1042LEU | Hemolytic uremic syndrome atypical 5 (AHUS5) | Swiss-Prot | VAR_019206 | Polymorphism | p.ARG863LYS | N/A | Swiss-Prot | VAR_063214 | Disease | p.ARG592TRP | Hemolytic uremic syndrome atypical 5 (AHUS5) | Swiss-Prot | VAR_063215 | Disease | p.ARG735TRP | Hemolytic uremic syndrome atypical 5 (AHUS5) | Swiss-Prot | VAR_063217 | Disease | p.ASP1115ASN | Hemolytic uremic syndrome atypical 5 (AHUS5) | Swiss-Prot | VAR_022761 | Polymorphism | p.ASP1216ASN | N/A | Swiss-Prot | VAR_001985 | Disease | p.ASP549ASN | Complement component 3 deficiency (C3D) | Swiss-Prot | VAR_063218 | Disease | p.CYS1158TRP | Hemolytic uremic syndrome atypical 5 (AHUS5) | Swiss-Prot | VAR_029792 | Polymorphism | p.GLN1521ARG | N/A | Swiss-Prot | VAR_063219 | Disease | p.GLN1161LYS | Hemolytic uremic syndrome atypical 5 (AHUS5) | dbSNP | rs11569422 | Polymorphism | p.GLU469ASP | N/A | Swiss-Prot | VAR_019207 | Polymorphism | p.GLY1224ASP | N/A | Swiss-Prot | VAR_029793 | Polymorphism | p.HIS1601ASN | N/A | Swiss-Prot | VAR_063220 | Disease | p.HIS1464ASP | Hemolytic uremic syndrome atypical 5 (AHUS5) | Swiss-Prot | VAR_019208 | Polymorphism | p.ILE1367THR | N/A | Swiss-Prot | VAR_063654 | Disease | p.PHE603VAL | Hemolytic uremic syndrome atypical 5 (AHUS5) | dbSNP | rs1047286 | Polymorphism | p.PRO314LEU | N/A | Swiss-Prot | VAR_029326 | Polymorphism | p.SER1619ARG | N/A | OMIM | 120700.0006 | Disease | p.ALA1072VAL | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 | OMIM | 120700.0005 | Disease | p.ARG570GLN | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 | OMIM | 120700.0001 | Polymorphism | p.ARG102GLY | MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO||C3S/C3F POLYMORPHISM | OMIM | 120700.0007 | Disease | p.ASP1093ASN | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 | OMIM | 120700.0010 | Disease | p.LYS155GLN | MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO | OMIM | 120700.0008 | Disease | p.TYR832TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 |
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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