|
|
|---|
 |
|
Known Diseases associated with this Protein: |  THROMBOPHILIA DUE TO HEPARIN COFACTOR 2 DEFICIENCY (THPH10)
|
|  | 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. |
|---|
 Default View:
| |
|---|
 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_011746 | Polymorphism | p.ALA7THR | N/A | | Swiss-Prot | VAR_007112 | Disease | p.ARG208HIS | Thrombophilia due to heparin cofactor 2 deficiency (THPH10) | | Swiss-Prot | VAR_054977 | Disease | p.GLU447LYS | Thrombophilia due to heparin cofactor 2 deficiency (THPH10) | | Swiss-Prot | VAR_011747 | Polymorphism | p.HIS60PRO | N/A | | Swiss-Prot | VAR_051954 | Polymorphism | p.LEU129VAL | N/A | | Swiss-Prot | VAR_011748 | Polymorphism | p.LYS237ARG | N/A | | Swiss-Prot | VAR_054978 | Disease | p.PRO462LEU | Thrombophilia due to heparin cofactor 2 deficiency (THPH10) | | Swiss-Prot | VAR_051953 | Polymorphism | p.SER87ASN | N/A | | Swiss-Prot | VAR_011749 | Polymorphism | p.THR442MET | N/A |
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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|
123055
HEP2_HUMAN RecName: Full=Heparin cofactor 2; AltName: Full=Heparin cofactor II; Short=HC-II; AltName: Full=Protease inhibitor leuserpin-2; Short=HLS2; AltName: Full=Serpin D1; Flags: Precursor
3
6
0
0
9
