|
|
|---|
 |
|
Known Diseases associated with this Protein: |  GLYCOGEN STORAGE DISEASE VI
|
|  | 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 | rs2228499 | Polymorphism | p.ARG391PRO | N/A | | dbSNP | rs78558135 | Polymorphism | p.ASN811SER | N/A | | dbSNP | rs35831273 | Polymorphism | p.VAL664GLY | N/A | | dbSNP | rs946616 | Polymorphism | p.VAL188ILE | N/A | | OMIM | 613741.0004 | Disease | p.ASN342LYS | GLYCOGEN STORAGE DISEASE VI | | OMIM | 613741.0003 | Disease | p.ASN304SER | GLYCOGEN STORAGE DISEASE VI |
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 |
|
255653002
glycogen phosphorylase, liver form isoform 2 [Homo sapiens]
2
4
2
4
0
