|
|
|
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
OMIM | 605020.0004 | Disease | p.ALA1SER | CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME | OMIM | 605020.0001 | Disease | p.ARG166TRP | KERATOCONUS 1 | OMIM | 605020.0002 | Disease | p.GLY160ASP | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1||KERATOCONUS 1, INCLUDED | OMIM | 605020.0003 | Disease | p.LEU159MET | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 605020.0005 | Disease | p.LEU17PRO | KERATOCONUS 1 |
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 |
|