|
|
|---|
 |
|
Known Diseases associated with this Protein: |  LEBER CONGENITAL AMAUROSIS 5
|
|  | 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 ↕ |
|---|
| Swiss-Prot | VAR_038991 | Polymorphism | p.ALA546PRO | N/A | | dbSNP | rs35338066 | Polymorphism | p.ARG66GLN | N/A | | dbSNP | rs34068461 | Polymorphism | p.ASP26ALA | N/A | | dbSNP | rs1875845 | Polymorphism | p.GLY656ASP | N/A | | dbSNP | rs75319738 | Polymorphism | p.ILE527VAL | N/A | | dbSNP | rs2655655 | Polymorphism | p.LEU24SER | N/A | | OMIM | 611408.0003 | Disease | p.GLN279TER | LEBER CONGENITAL AMAUROSIS 5 |
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 |
|
71658798
LCA5_HUMAN RecName: Full=Lebercilin; AltName: Full=Leber congenital amaurosis 5 protein
1
6
1
5
1
