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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_032701 | Disease | p.ARG2102CYS | Factor V deficiency (FA5D) | Swiss-Prot | VAR_001213 | Polymorphism | p.ARG534GLN | N/A | Swiss-Prot | VAR_013620 | Polymorphism | p.ARG334GLY | N/A | Swiss-Prot | VAR_017329 | Disease | p.ARG2102HIS | Thrombophilia due to activated protein C resistance (THPH2) | Swiss-Prot | VAR_021300 | Polymorphism | p.ARG980LEU | N/A | dbSNP | rs6020 | Polymorphism | p.ARG513LYS | N/A | Swiss-Prot | VAR_013621 | Disease | p.ARG334THR | Thrombophilia due to activated protein C resistance (THPH2) | Swiss-Prot | VAR_021299 | Polymorphism | p.ASN969SER | N/A | dbSNP | rs6018 | Polymorphism | p.ASN817THR | N/A | dbSNP | rs6027 | Polymorphism | p.ASP2222GLY | N/A | dbSNP | rs6019 | Polymorphism | p.ASP107HIS | N/A | Swiss-Prot | VAR_032699 | Disease | p.CYS613ARG | Thrombophilia due to activated protein C resistance (THPH2) | Swiss-Prot | VAR_013894 | Polymorphism | p.GLU1530ALA | N/A | dbSNP | rs9332485 | Polymorphism | p.GLY15SER | N/A | dbSNP | rs1800595 | Polymorphism | p.HIS1327ARG | N/A | dbSNP | rs4525 | Polymorphism | p.HIS865ARG | N/A | dbSNP | rs6005 | Polymorphism | p.HIS1146GLN | N/A | Swiss-Prot | VAR_032698 | Disease | p.ILE387THR | Thrombophilia due to activated protein C resistance (THPH2) | Swiss-Prot | VAR_013892 | Polymorphism | p.LEU1285ILE | N/A | Swiss-Prot | VAR_047741 | Polymorphism | p.LEU1397PHE | N/A | Swiss-Prot | VAR_013896 | Polymorphism | p.LEU1749VAL | N/A | Swiss-Prot | VAR_034603 | Polymorphism | p.LYS2185ARG | N/A | dbSNP | rs4524 | Polymorphism | p.LYS858ARG | N/A | dbSNP | rs6032 | Polymorphism | p.LYS925GLU | N/A | Swiss-Prot | VAR_013898 | Polymorphism | p.MET1820ILE | N/A | Swiss-Prot | VAR_021302 | Polymorphism | p.MET2148THR | N/A | dbSNP | rs6033 | Polymorphism | p.MET413THR | N/A | Swiss-Prot | VAR_013897 | Polymorphism | p.MET1764VAL | N/A | dbSNP | rs9332608 | Polymorphism | p.PRO1404SER | N/A | dbSNP | rs6031 | Polymorphism | p.PRO809SER | N/A | Swiss-Prot | VAR_035817 | Polymorphism | p.SER775ALA | N/A | Swiss-Prot | VAR_047740 | Polymorphism | p.SER781ARG | N/A | Swiss-Prot | VAR_013895 | Polymorphism | p.THR1685SER | N/A | dbSNP | rs9332695 | Polymorphism | p.THR915SER | N/A | Swiss-Prot | VAR_032700 | Disease | p.TYR1730CYS | Factor V deficiency (FA5D) | OMIM | 612309.0012 | Disease | p.ARG2074CYS | FACTOR V DEFICIENCY | OMIM | 612309.0001 | Disease | p.ARG506GLN | THROMBOPHILIA DUE TO FACTOR V LEIDEN||STROKE, ISCHEMIC, SUSCEPTIBILITY TO, INCLUDED;;||BUDD-CHIARI SYNDROME, SUSCEPTIBIL | OMIM | 612309.0002 | Disease | p.ARG306GLY | FACTOR V HONG KONG | OMIM | 612309.0009 | Disease | p.ARG1133TER | FACTOR V DEFICIENCY | OMIM | 612309.0003 | Disease | p.ARG306THR | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE | OMIM | 612309.0008 | Disease | p.GLN773TER | FACTOR V DEFICIENCY | OMIM | 612309.0014 | Disease | p.GLU119TER | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE | OMIM | 612309.0013 | Disease | p.ILE359THR | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE | OMIM | 612309.0007 | Disease | p.TYR1702CYS | FACTOR V DEFICIENCY |
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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