|
|
|
|
| | 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 ↕ |
---|
Swiss-Prot | VAR_053424 | Polymorphism | p.GLY1084SER | N/A | Swiss-Prot | VAR_067312 | Disease | p.LEU7PRO | Asphyxiating thoracic dystrophy 5 (ATD5) | Swiss-Prot | VAR_067314 | Disease | p.LEU710SER | Cranioectodermal dysplasia 4 (CED4) | Swiss-Prot | VAR_067313 | Disease | p.VAL345GLY | Nephronophthisis 13 (NPHP13) | dbSNP | rs75964850 | Polymorphism | p.VAL304ILE | N/A | OMIM | 608151.0002 | Disease | p.ARG1103TER | CRANIOECTODERMAL DYSPLASIA 4 | OMIM | 608151.0003 | Disease | p.LEU7PRO | ASPHYXIATING THORACIC DYSTROPHY 5 | OMIM | 608151.0001 | Disease | p.LEU710SER | CRANIOECTODERMAL DYSPLASIA 4 | OMIM | 608151.0004 | Disease | p.VAL345GLY | NEPHRONOPHTHISIS 13 |
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 |
|