|
|
 |
|
|  | 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 ↕ |
---|
Swiss-Prot | VAR_070234 | Disease | p.ASP349ASN | Deafness, autosomal recessive, 89 (DFNB89) | Swiss-Prot | VAR_052640 | Polymorphism | p.GLY179ALA | N/A | Swiss-Prot | VAR_064912 | Disease | p.ILE274MET | Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) | Swiss-Prot | VAR_064911 | Disease | p.LEU105HIS | Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) | dbSNP | rs6834 | Polymorphism | p.THR595SER | N/A | Swiss-Prot | VAR_070233 | Disease | p.TYR145HIS | Deafness, autosomal recessive, 89 (DFNB89) | OMIM | 601421.0004 | Disease | p.ASP349ASN | DEAFNESS, AUTOSOMAL RECESSIVE 89 | OMIM | 601421.0001 | Disease | p.LEU105HIS | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B | OMIM | 601421.0003 | Disease | p.TYR145HIS | DEAFNESS, AUTOSOMAL RECESSIVE 89 |
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 |
|