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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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FBG | smart00186 | 3.8e-151 | 237 | 487 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_002407 | Polymorphism | p.ALA365THR | N/A | Swiss-Prot | VAR_002406 | Polymorphism | p.ALA98THR | N/A | Swiss-Prot | VAR_016908 | Disease | p.ARG196CYS | Congenital afibrinogenemia (CAFBN) | Swiss-Prot | VAR_002403 | Polymorphism | p.ARG44CYS | N/A | Swiss-Prot | VAR_002405 | Polymorphism | p.ARG74CYS | N/A | dbSNP | rs4220 | Polymorphism | p.ARG478LYS | N/A | Swiss-Prot | VAR_013092 | Polymorphism | p.ASN170HIS | N/A | Swiss-Prot | VAR_002404 | Polymorphism | p.GLY45ARG | N/A | Swiss-Prot | VAR_016910 | Disease | p.GLY430ASP | Congenital afibrinogenemia (CAFBN) | Swiss-Prot | VAR_016909 | Disease | p.LEU383ARG | Congenital afibrinogenemia (CAFBN) | Swiss-Prot | VAR_014169 | Polymorphism | p.LYS2GLU | N/A | Swiss-Prot | VAR_013093 | Polymorphism | p.PRO265LEU | N/A | Swiss-Prot | VAR_013091 | Polymorphism | p.PRO100SER | N/A | OMIM | 134830.0003 | Disease | p.ALA335THR | FIBRINOGEN PONTOISE 2 | OMIM | 134830.0007 | Disease | p.ALA68THR | FIBRINOGEN NAPLES||FIBRINOGEN MILANO 2;;||THROMBOPHILIA, DYSFIBRINOGENEMIC | OMIM | 134830.0002 | Disease | p.ARG14CYS | FIBRINOGEN CHRISTCHURCH 2||FIBRINOGEN SEATTLE 1;;||FIBRINOGEN IJmuiden | OMIM | 134830.0011 | Disease | p.ARG166CYS | FIBRINOGEN LONGMONT | OMIM | 134830.0006 | Disease | p.ARG44CYS | FIBRINOGEN NIJMEGEN | OMIM | 134830.0004 | Disease | p.ARG448LYS | FIBRINOGEN BALTIMORE 2 | OMIM | 134830.0016 | Disease | p.ARG17TER | HYPOFIBRINOGENEMIA, CONGENITAL | OMIM | 134830.0010 | Disease | p.GLY400ASP | AFIBRINOGENEMIA, CONGENITAL | OMIM | 134830.0005 | Disease | p.GLY15CYS | FIBRINOGEN ISE | OMIM | 134830.0009 | Disease | p.LEU353ARG | AFIBRINOGENEMIA, CONGENITAL | OMIM | 134830.0015 | Disease | p.LEU172GLN | HYPOFIBRINOGENEMIA, CONGENITAL |
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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