|
|
|---|
 |
|
Known Diseases associated with this Protein: |  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
| HEXOKINASE DEFICIENCY (HK DEFICIENCY)
|
|  | 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_023781 | Polymorphism | p.LEU776MET | N/A | | Swiss-Prot | VAR_009878 | Disease | p.LEU529SER | Hexokinase deficiency (HK deficiency) | | Swiss-Prot | VAR_023780 | Disease | p.THR680SER | Hexokinase deficiency (HK deficiency) | | OMIM | 142600.0002 | Disease | p.LEU525SER | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | | OMIM | 142600.0004 | Disease | p.THR676SER | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE 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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|
116242516
HXK1_HUMAN RecName: Full=Hexokinase-1; AltName: Full=Brain form hexokinase; AltName: Full=Hexokinase type I; Short=HK I
4
1
2
0
3
