|
|
|
|
| | 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_062102 | Polymorphism | p.ALA878PRO | N/A | Swiss-Prot | VAR_064582 | Disease | p.ALA875THR | Cranioectodermal dysplasia 2 (CED2) | Swiss-Prot | VAR_062103 | Polymorphism | p.ALA878THR | N/A | dbSNP | rs113345685 | Polymorphism | p.ARG545GLN | N/A | dbSNP | rs1060742 | Polymorphism | p.GLN18ARG | N/A | Swiss-Prot | VAR_064581 | Disease | p.GLU626GLY | Cranioectodermal dysplasia 2 (CED2) | dbSNP | rs1191778 | Polymorphism | p.GLU983GLY | N/A | Swiss-Prot | VAR_065955 | Disease | p.TRP261ARG | Short rib-polydactyly syndrome 5 (SRPS5) | OMIM | 613602.0004 | Disease | p.ALA875THR | CRANIOECTODERMAL DYSPLASIA 2 | OMIM | 613602.0006 | Disease | p.ARG545TER | SHORT RIB-POLYDACTYLY SYNDROME V | OMIM | 613602.0002 | Disease | p.GLU626GLY | CRANIOECTODERMAL DYSPLASIA 2 | OMIM | 613602.0007 | Disease | p.TRP261ARG | SHORT RIB-POLYDACTYLY SYNDROME V |
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 |
|