|
|
|---|
 |
|
|  | 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_008290 | Disease | p.GLY189CYS | Sorsby fundus dystrophy (SFD) | | Swiss-Prot | VAR_010901 | Disease | p.GLY190CYS | Sorsby fundus dystrophy (SFD) | | Swiss-Prot | VAR_007508 | Disease | p.SER179CYS | Sorsby fundus dystrophy (SFD) | | Swiss-Prot | VAR_007510 | Disease | p.SER204CYS | Sorsby fundus dystrophy (SFD) | | Swiss-Prot | VAR_007509 | Disease | p.TYR191CYS | Sorsby fundus dystrophy (SFD) | | OMIM | 188826.0005 | Disease | p.GLU139TER | SORSBY FUNDUS DYSTROPHY | | OMIM | 188826.0004 | Disease | p.GLY166CYS | SORSBY FUNDUS DYSTROPHY, LAVIA TYPE | | OMIM | 188826.0003 | Disease | p.SER156CYS | SORSBY FUNDUS DYSTROPHY | | OMIM | 188826.0001 | Disease | p.SER181CYS | SORSBY FUNDUS DYSTROPHY | | OMIM | 188826.0002 | Disease | p.TYR168CYS | SORSBY FUNDUS DYSTROPHY |
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 |
|
730948
TIMP3_HUMAN RecName: Full=Metalloproteinase inhibitor 3; AltName: Full=Protein MIG-5; AltName: Full=Tissue inhibitor of metalloproteinases 3; Short=TIMP-3; Flags: Precursor
10
0
5
0
5
