|
|
|---|
 |
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| OMIM | 191030.0009 | Disease | p.ARG131CYS | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY 1, INCLUDED | | OMIM | 191030.0008 | Disease | p.ARG131GLY | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | | OMIM | 191030.0005 | Disease | p.ARG131HIS | NEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED;;||CAP MYOPATHY 1, INCLUDED | | OMIM | 191030.0007 | Disease | p.LEU63MET | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | | OMIM | 191030.0002 | Disease | p.TER1SER | NEMALINE MYOPATHY 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 |
|
114155144
tropomyosin alpha-3 chain isoform 4 [Homo sapiens]
5
0
5
0
0
