|
|
|---|
 |
|
|  | 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 ↕ |
|---|
| Swiss-Prot | VAR_016086 | Disease | p.ARG91GLY | Arthrogryposis, distal, 1A (DA1A) | | Swiss-Prot | VAR_013469 | Disease | p.GLN147PRO | Nemaline myopathy 4 (NEM4) | | Swiss-Prot | VAR_013468 | Disease | p.GLU117ALA | Nemaline myopathy 4 (NEM4) | | Swiss-Prot | VAR_052402 | Polymorphism | p.GLU273LYS | N/A | | OMIM | 190990.0001 | Disease | p.ARG91GLY | ARTHROGRYPOSIS, DISTAL, TYPE 1 | | OMIM | 190990.0004 | Disease | p.ARG133TRP | ARTHROGRYPOSIS, DISTAL, TYPE 2B | | OMIM | 190990.0008 | Disease | p.ASN1LYS | CAP MYOPATHY 2 | | OMIM | 190990.0002 | Disease | p.GLN147PRO | NEMALINE MYOPATHY 4 | | OMIM | 190990.0003 | Disease | p.GLU117LYS | NEMALINE MYOPATHY 4 | | OMIM | 190990.0005 | Disease | p.GLU41LYS | NEMALINE MYOPATHY 4 |
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 |
|
136090
TPM2_HUMAN RecName: Full=Tropomyosin beta chain; AltName: Full=Beta-tropomyosin; AltName: Full=Tropomyosin-2
9
1
6
0
4
