|
|
|
|
Known Diseases associated with this Protein: | CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (1 FAMILY)
| VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
|
| | 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 Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs2137722 | Polymorphism | p.ARG1322CYS | N/A | dbSNP | rs3744718 | Polymorphism | p.ARG404GLN | N/A | dbSNP | rs73973843 | Polymorphism | p.ILE601PHE | N/A | dbSNP | rs12150220 | Polymorphism | p.LEU155HIS | N/A | dbSNP | rs35596958 | Polymorphism | p.MET1119VAL | N/A | dbSNP | rs11651270 | Polymorphism | p.MET1184VAL | N/A | dbSNP | rs34733791 | Polymorphism | p.THR995ILE | N/A | dbSNP | rs11657747 | Polymorphism | p.THR878MET | N/A | dbSNP | rs11651595 | Polymorphism | p.THR246SER | N/A | dbSNP | rs52795654 | Polymorphism | p.THR782SER | N/A | dbSNP | rs11653832 | Polymorphism | p.VAL1241LEU | N/A | dbSNP | rs2301582 | Polymorphism | p.VAL1059MET | N/A | OMIM | 606636.0001 | Disease | p.LEU155HIS | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 | OMIM | 606636.0002 | Disease | p.MET77THR | CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (1 family) |
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 |
|