Known Diseases associated with this Protein: |  ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
| BOSLEY-SALIH-ALORAINY SYNDROME
|
|  | 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_030576 | Polymorphism | p.GLU189ALA | N/A | | dbSNP | rs10951154 | Polymorphism | p.HIS73ARG | N/A | | OMIM | 142955.0003 | Disease | p.ARG26TER | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME | | OMIM | 142955.0002 | Disease | p.TYR28TER | BOSLEY-SALIH-ALORAINY 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 |
|
6166216
HXA1_HUMAN RecName: Full=Homeobox protein Hox-A1; AltName: Full=Homeobox protein Hox-1F
2
2
2
1
1
