|  | 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 ↕ |
|---|
| Swiss-Prot | VAR_048214 | Polymorphism | p.ARG170HIS | N/A | | Swiss-Prot | VAR_048215 | Polymorphism | p.GLN172LEU | 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 |
|
416877
AK1C1_HUMAN RecName: Full=Aldo-keto reductase family 1 member C1; AltName: Full=20-alpha-hydroxysteroid dehydrogenase; Short=20-alpha-HSD; AltName: Full=Chlordecone reductase homolog HAKRC; AltName: Full=Dihydrodiol dehydrogenase 1/2; Short=DD1/DD2; AltName: Full=High-affinity hepatic bile acid-binding protein; Short=HBAB; AltName: Full=Indanol dehydrogenase; AltName: Full=Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
0
2
0
0
2
