Known Diseases associated with this Protein: |  PANCREATIC AND CEREBELLAR AGENESIS
|
|  | 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 ↕ |
|---|
| dbSNP | rs7918487 | Polymorphism | p.SER263PRO | N/A | | OMIM | 607194.0001 | Disease | p.ARG296TER | PANCREATIC AND CEREBELLAR AGENESIS |
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 |
|
74749931
PTF1A_HUMAN RecName: Full=Pancreas transcription factor 1 subunit alpha; AltName: Full=Class A basic helix-loop-helix protein 29; Short=bHLHa29; AltName: Full=Pancreas-specific transcription factor 1a; AltName: Full=bHLH transcription factor p48; AltName: Full=p48 DNA-binding subunit of transcription factor PTF1; Short=PTF1-p48
1
1
1
1
0
