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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_033649 | Polymorphism | p.ALA340GLY | N/A | Swiss-Prot | VAR_014336 | Polymorphism | p.ALA207PRO | N/A | Swiss-Prot | VAR_031503 | Disease | p.ALA411THR | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_031505 | Disease | p.ARG417GLN | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_031500 | Disease | p.ARG142PRO | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_006623 | Disease | p.ARG372PRO | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_031507 | Disease | p.ASP461ASN | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_006624 | Disease | p.CYS590SER | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_031506 | Disease | p.GLN440LYS | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_031509 | Disease | p.GLY589ARG | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_014337 | Polymorphism | p.GLY545ASP | N/A | Swiss-Prot | VAR_031504 | Disease | p.LEU414MET | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_029191 | Polymorphism | p.PRO342GLN | N/A | dbSNP | rs2230939 | Polymorphism | p.PRO342LEU | N/A | Swiss-Prot | VAR_031502 | Disease | p.THR328ARG | Hereditary angioedema 3 (HAE3) | Swiss-Prot | VAR_031501 | Disease | p.THR328LYS | Hereditary angioedema 3 (HAE3) | Swiss-Prot | VAR_031508 | Disease | p.TRP505CYS | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_014426 | Disease | p.TYR53CYS | Factor XII deficiency (FA12D) | Swiss-Prot | VAR_014338 | Polymorphism | p.TYR605HIS | N/A | OMIM | 610619.0002 | Disease | p.ARG353PRO | FACTOR XII (LOCARNO) | OMIM | 610619.0001 | Disease | p.CYS571SER | FACTOR XII (WASHINGTON D.C.) | OMIM | 610619.0007 | Disease | p.THR309ARG | ANGIOEDEMA, HEREDITARY, TYPE III | OMIM | 610619.0006 | Disease | p.THR309LYS | ANGIOEDEMA, HEREDITARY, TYPE III | OMIM | 610619.0005 | Disease | p.TYR34CYS | FACTOR XII (TENRI) |
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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