|
|
|
|
Known Diseases associated with this Protein: | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A12 (MDDGA12)
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_069626 | Disease | p.GLN258ARG | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) | Swiss-Prot | VAR_069625 | Disease | p.LEU137ARG | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) | Swiss-Prot | VAR_041376 | Polymorphism | p.MET342ILE | N/A | Swiss-Prot | VAR_041375 | Polymorphism | p.MET301THR | N/A | Swiss-Prot | VAR_041372 | Polymorphism | p.SER48PRO | N/A | Swiss-Prot | VAR_041373 | Polymorphism | p.TYR140PHE | N/A | Swiss-Prot | VAR_041374 | Polymorphism | p.VAL254MET | N/A |
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 |
|