|
|
|---|
 |
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_009312 | Disease | p.ARG197HIS | Maturity-onset diabetes of the young 4 (MODY4) | | Swiss-Prot | VAR_009311 | Polymorphism | p.ASP76ASN | N/A | | Swiss-Prot | VAR_009309 | Disease | p.CYS18ARG | Maturity-onset diabetes of the young 4 (MODY4) | | Swiss-Prot | VAR_009310 | Disease | p.GLN59LEU | Maturity-onset diabetes of the young 4 (MODY4) | | OMIM | 600733.0006 | Disease | p.ARG197HIS | DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO | | OMIM | 600733.0002 | Disease | p.ASP76ASN | DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO | | OMIM | 600733.0005 | Disease | p.CYS18ARG | DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO | | OMIM | 600733.0003 | Disease | p.GLN59LEU | DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO | | OMIM | 600733.0008 | Disease | p.GLU164ASP | PANCREATIC AGENESIS||DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO, INCLUDED | | OMIM | 600733.0010 | Disease | p.GLU178GLY | PANCREATIC AGENESIS | | OMIM | 600733.0009 | Disease | p.GLU178LYS | PANCREATIC AGENESIS | | OMIM | 600733.0007 | Disease | p.GLU224LYS | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV |
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 |
|
1708540
PDX1_HUMAN RecName: Full=Pancreas/duodenum homeobox protein 1; Short=PDX-1; AltName: Full=Glucose-sensitive factor; Short=GSF; AltName: Full=Insulin promoter factor 1; Short=IPF-1; AltName: Full=Insulin upstream factor 1; Short=IUF-1; AltName: Full=Islet/duodenum homeobox-1; Short=IDX-1; AltName: Full=Somatostatin-transactivating factor 1; Short=STF-1
11
1
8
0
4
