|
|
|---|
 |
|
Known Diseases associated with this Protein: |  LIMB-GIRDLE MUSCULAR DYSTROPHY 2S (LGMD2S)
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
|
|  | 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 | rs62617790 | Polymorphism | p.GLN933HIS | N/A | | dbSNP | rs62358032 | Polymorphism | p.THR812PRO | N/A | | dbSNP | rs67383011 | Polymorphism | p.VAL660LEU | N/A | | Swiss-Prot | VAR_070158 | Disease | p.GLY980ARG | Limb-girdle muscular dystrophy 2S (LGMD2S) | | OMIM | 614138.0001 | Disease | p.GLY980ARG | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S |
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 |
|
205696378
TPC11_HUMAN RecName: Full=Trafficking protein particle complex subunit 11
2
3
1
3
1
