Known Diseases associated with this Protein: |  CILIARY DYSKINESIA, PRIMARY, 10
|
|  | 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 ↕ |
|---|
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs116185352 | Polymorphism | p.ASN48LYS | N/A | | dbSNP | rs9989177 | Polymorphism | p.ASP768GLY | N/A | | dbSNP | rs2985684 | Polymorphism | p.GLU62ASP | N/A | | OMIM | 612517.0002 | Disease | p.SER8TER | CILIARY DYSKINESIA, PRIMARY, 10 |
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 |
|
224471834
KTU_HUMAN RecName: Full=Protein kintoun; AltName: Full=Dynein assembly factor 2, axonemal
1
3
1
3
0
