|
|
|---|
 |
|
Known Diseases associated with this Protein: |  LOEYS-DIETZ SYNDROME 3 (LDS3)
| LOEYS-DIETZ SYNDROME, TYPE 3
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_067051 | Disease | p.ALA112VAL | Loeys-Dietz syndrome 3 (LDS3) | | Swiss-Prot | VAR_067048 | Disease | p.ARG279LYS | Loeys-Dietz syndrome 3 (LDS3) | | Swiss-Prot | VAR_065579 | Disease | p.ARG287TRP | Loeys-Dietz syndrome 3 (LDS3) | | Swiss-Prot | VAR_067047 | Disease | p.GLU239LYS | Loeys-Dietz syndrome 3 (LDS3) | | dbSNP | rs35874463 | Polymorphism | p.ILE170VAL | N/A | | Swiss-Prot | VAR_036474 | Polymorphism | p.PRO393LEU | N/A | | Swiss-Prot | VAR_065578 | Disease | p.THR261ILE | Loeys-Dietz syndrome 3 (LDS3) | | OMIM | 603109.0007 | Disease | p.ALA112VAL | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0005 | Disease | p.ARG279LYS | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0001 | Disease | p.ARG287TRP | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0006 | Disease | p.GLU239LYS | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0010 | Disease | p.GLU361TER | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0009 | Disease | p.PRO263LEU | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0003 | Disease | p.THR261ILE | LOEYS-DIETZ SYNDROME, TYPE 3 |
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 |
|
51338669
SMAD3_HUMAN RecName: Full=Mothers against decapentaplegic homolog 3; Short=MAD homolog 3; Short=Mad3; Short=Mothers against DPP homolog 3; Short=hMAD-3; AltName: Full=JV15-2; AltName: Full=SMAD family member 3; Short=SMAD 3; Short=Smad3; Short=hSMAD3
12
2
7
1
6
