|
|
|---|
 |
|
Known Diseases associated with this Protein: |  GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
| GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY (GHII)
|
|  | 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_018728 | Disease | p.ALA630PRO | Growth hormone insensitivity with immunodeficiency (GHII) | | Swiss-Prot | VAR_052074 | Polymorphism | p.ALA130VAL | N/A | | Swiss-Prot | VAR_067368 | Disease | p.PHE646SER | Growth hormone insensitivity with immunodeficiency (GHII) | | OMIM | 604260.0001 | Disease | p.ALA630PRO | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | OMIM | 604260.0004 | Disease | p.ARG152TER | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY |
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 |
|
41019536
STA5B_HUMAN RecName: Full=Signal transducer and activator of transcription 5B
4
1
2
0
3
