|
|
|---|
 |
|
Known Diseases associated with this Protein: |  ADULT POLYGLUCOSAN BODY DISEASE (APBD)
| GLYCOGEN STORAGE DISEASE 4 (GSD4)
|
|  | 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_022432 | Disease | p.ARG515CYS | Glycogen storage disease 4 (GSD4) | | Swiss-Prot | VAR_022434 | Disease | p.ARG524GLN | Glycogen storage disease 4 (GSD4) | | Swiss-Prot | VAR_022109 | Polymorphism | p.ARG190GLY | N/A | | Swiss-Prot | VAR_022433 | Disease | p.ARG515HIS | Adult polyglucosan body disease (APBD) | | Swiss-Prot | VAR_022435 | Disease | p.HIS545ARG | Glycogen storage disease 4 (GSD4) | | Swiss-Prot | VAR_022436 | Disease | p.HIS628ARG | Glycogen storage disease 4 (GSD4) | | Swiss-Prot | VAR_034748 | Polymorphism | p.ILE334VAL | N/A | | Swiss-Prot | VAR_022429 | Disease | p.LEU224PRO | Glycogen storage disease 4 (GSD4) | | Swiss-Prot | VAR_022430 | Disease | p.PHE257LEU | Glycogen storage disease 4 (GSD4) | | Swiss-Prot | VAR_034749 | Polymorphism | p.THR507ALA | N/A | | Swiss-Prot | VAR_034747 | Polymorphism | p.THR265SER | N/A | | Swiss-Prot | VAR_022431 | Disease | p.TYR329SER | Glycogen storage disease 4 (GSD4) |
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 |
|
357529509
GLGB_HUMAN RecName: Full=1,4-alpha-glucan-branching enzyme; AltName: Full=Brancher enzyme; AltName: Full=Glycogen-branching enzyme
8
4
0
0
12
