|
|
|---|
 |
|
Known Diseases associated with this Protein: |  GLYCOGEN STORAGE DISEASE IB
| GLYCOGEN STORAGE DISEASE IC
|
|  | 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 ↕ |
|---|
| dbSNP | rs34871377 | Polymorphism | p.GLU449LYS | N/A | | dbSNP | rs8192696 | Polymorphism | p.GLY431SER | N/A | | OMIM | 602671.0013 | Disease | p.ARG28HIS | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0014 | Disease | p.ARG415TER | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0002 | Disease | p.GLU355TER | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0015 | Disease | p.GLY339ASP | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0001 | Disease | p.GLY339CYS | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0003 | Disease | p.TRP118ARG | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0008 | Disease | p.TRP96TER | GLYCOGEN STORAGE DISEASE Ic |
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 |
|
256219543
glucose-6-phosphate translocase isoform 2 [Homo sapiens]
7
2
7
2
0
