|
|
|---|
 |
|
|  | 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_032012 | Polymorphism | p.ARG67HIS | N/A | | Swiss-Prot | VAR_011689 | Disease | p.ASN34SER | Tropical calcific pancreatitis (TCP) | | dbSNP | rs35877720 | Disease | p.LEU12PHE | Pancreatitis, hereditary (PCTT) | | Swiss-Prot | VAR_011688 | Disease | p.LEU14PRO | Pancreatitis, hereditary (PCTT) | | Swiss-Prot | VAR_011690 | Polymorphism | p.PRO55SER | N/A | | OMIM | 167790.0001 | Disease | p.ASN34SER | PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO||TROPICAL CALCIFIC PANCREATITIS, INCLUDED;;||FIBROCALCULOUS PANCREATIC DIABETES | | OMIM | 167790.0006 | Disease | p.LEU14ARG | PANCREATITIS, CHRONIC | | OMIM | 167790.0005 | Disease | p.LEU14PRO | PANCREATITIS, CHRONIC |
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 |
|
124856
ISK1_HUMAN RecName: Full=Pancreatic secretory trypsin inhibitor; AltName: Full=Serine protease inhibitor Kazal-type 1; AltName: Full=Tumor-associated trypsin inhibitor; Short=TATI; Flags: Precursor
6
2
3
1
4
