|
|
|---|
 |
|
Known Diseases associated with this Protein: |  HETEROTAXY, VISCERAL, 5, AUTOSOMAL
| HETEROTAXY, VISCERAL, 5, AUTOSOMAL (HTX5)
|
|  | 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 ↕ |
|---|
| TGFB | smart00204 | 5.9e-59 | 247 | 347 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_062282 | Disease | p.ARG275CYS | Heterotaxy, visceral, 5, autosomal (HTX5) | | Swiss-Prot | VAR_015111 | Disease | p.ARG183GLN | Heterotaxy, visceral, 5, autosomal (HTX5) | | Swiss-Prot | VAR_038194 | Disease | p.GLU203LYS | Heterotaxy, visceral, 5, autosomal (HTX5) | | Swiss-Prot | VAR_036202 | Polymorphism | p.GLU279LYS | N/A | | Swiss-Prot | VAR_062281 | Disease | p.GLY260ARG | Heterotaxy, visceral, 5, autosomal (HTX5) | | dbSNP | rs1904589 | Polymorphism | p.HIS165ARG | N/A | | Swiss-Prot | VAR_062283 | Disease | p.VAL284PHE | Heterotaxy, visceral, 5, autosomal (HTX5) | | OMIM | 601265.0001 | Disease | p.ARG183GLN | HETEROTAXY, VISCERAL, 5, AUTOSOMAL | | OMIM | 601265.0002 | Disease | p.GLY260ARG | HETEROTAXY, VISCERAL, 5, AUTOSOMAL |
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 |
|
166214958
NODAL_HUMAN RecName: Full=Nodal homolog; Flags: Precursor
7
2
2
1
6
