|
|
|
|
Known Diseases associated with this Protein: | LACTATE DEHYDROGENASE B DEFICIENCY
|
| | 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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
---|
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_004174 | Polymorphism | p.ALA35GLU | N/A | Swiss-Prot | VAR_004177 | Polymorphism | p.ARG172HIS | N/A | Swiss-Prot | VAR_011636 | Polymorphism | p.ARG172PRO | N/A | Swiss-Prot | VAR_011635 | Polymorphism | p.ARG107TRP | N/A | Swiss-Prot | VAR_004179 | Polymorphism | p.ASP322VAL | N/A | Swiss-Prot | VAR_011634 | Polymorphism | p.GLY69GLU | N/A | Swiss-Prot | VAR_004173 | Polymorphism | p.LYS7GLU | N/A | Swiss-Prot | VAR_004178 | Polymorphism | p.MET175LEU | N/A | Swiss-Prot | VAR_049758 | Polymorphism | p.MET175VAL | N/A | Swiss-Prot | VAR_004176 | Polymorphism | p.PHE171VAL | N/A | Swiss-Prot | VAR_004175 | Polymorphism | p.SER129ARG | N/A | Swiss-Prot | VAR_011638 | Polymorphism | p.TRP325ARG | N/A | OMIM | 150100.0001 | Disease | p.ARG173HIS | LACTATE DEHYDROGENASE B DEFICIENCY | OMIM | 150100.0003 | Disease | p.LYS6GLU | LACTATE DEHYDROGENASE B DEFICIENCY | OMIM | 150100.0002 | Disease | p.SER131ARG | LACTATE DEHYDROGENASE B DEFICIENCY | OMIM | 150100.0004 | Disease | p.TRP323ARG | LACTATE DEHYDROGENASE B DEFICIENCY |
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 |
|