|
|
|---|
 |
|
Known Diseases associated with this Protein: |  PRIMARY BILE ACID MALABSORPTION (PBAM)
|
|  | 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_004614 | Disease | p.LEU243PRO | Primary bile acid malabsorption (PBAM) | | Swiss-Prot | VAR_004616 | Polymorphism | p.PRO290SER | N/A | | Swiss-Prot | VAR_004613 | Polymorphism | p.SER171ALA | N/A | | Swiss-Prot | VAR_004615 | Disease | p.THR262MET | Primary bile acid malabsorption (PBAM) | | Swiss-Prot | VAR_024838 | Polymorphism | p.VAL159ILE | N/A | | Swiss-Prot | VAR_024837 | Polymorphism | p.VAL98ILE | 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 |
|
322510055
NTCP2_HUMAN RecName: Full=Ileal sodium/bile acid cotransporter; AltName: Full=Apical sodium-dependent bile acid transporter; Short=ASBT; AltName: Full=Ileal Na(+)/bile acid cotransporter; AltName: Full=Ileal sodium-dependent bile acid transporter; Short=IBAT; Short=ISBT; AltName: Full=Na(+)-dependent ileal bile acid transporter; AltName: Full=Sodium/taurocholate cotransporting polypeptide, ileal; AltName: Full=Solute carrier family 10 member 2
2
4
0
0
6
