|
|
|---|
 |
|
Known Diseases associated with this Protein: |  SMALL PATELLA SYNDROME
| SMALL PATELLA SYNDROME (SPS)
|
|  | 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 | rs3744438 | Polymorphism | p.ALA314VAL | N/A | | Swiss-Prot | VAR_026772 | Polymorphism | p.ALA35VAL | N/A | | Swiss-Prot | VAR_026746 | Disease | p.GLN531ARG | Small patella syndrome (SPS) | | dbSNP | rs3744448 | Polymorphism | p.GLY6ALA | N/A | | Swiss-Prot | VAR_026745 | Disease | p.GLY248VAL | Small patella syndrome (SPS) | | OMIM | 601719.0003 | Disease | p.GLN531ARG | SMALL PATELLA SYNDROME | | OMIM | 601719.0002 | Disease | p.GLN62TER | SMALL PATELLA SYNDROME | | OMIM | 601719.0001 | Disease | p.GLY248VAL | SMALL PATELLA SYNDROME |
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 |
|
51338786
TBX4_HUMAN RecName: Full=T-box transcription factor TBX4; Short=T-box protein 4
5
3
3
2
3
