|
|
|
|
Known Diseases associated with this Protein: | HYALINE FIBROMATOSIS SYNDROME
| HYALINE FIBROMATOSIS SYNDROME (HFS)
|
| | 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 ↕ |
---|
dbSNP | rs12647691 | Polymorphism | p.ALA357PRO | N/A | Swiss-Prot | VAR_022690 | Disease | p.CYS218ARG | Hyaline fibromatosis syndrome (HFS) | Swiss-Prot | VAR_022688 | Disease | p.GLY105ASP | Hyaline fibromatosis syndrome (HFS) | Swiss-Prot | VAR_022689 | Disease | p.ILE189THR | Hyaline fibromatosis syndrome (HFS) | Swiss-Prot | VAR_022692 | Disease | p.LEU329ARG | Hyaline fibromatosis syndrome (HFS) | Swiss-Prot | VAR_022687 | Disease | p.LEU45PRO | Hyaline fibromatosis syndrome (HFS) | Swiss-Prot | VAR_022694 | Disease | p.TYR381CYS | Hyaline fibromatosis syndrome (HFS) | OMIM | 608041.0005 | Disease | p.GLU220TER | HYALINE FIBROMATOSIS SYNDROME | OMIM | 608041.0003 | Disease | p.GLY105ASP | HYALINE FIBROMATOSIS SYNDROME | OMIM | 608041.0006 | Disease | p.ILE189THR | HYALINE FIBROMATOSIS SYNDROME | OMIM | 608041.0004 | Disease | p.LEU329ARG | HYALINE FIBROMATOSIS SYNDROME | OMIM | 608041.0002 | Disease | p.TYR381CYS | HYALINE FIBROMATOSIS SYNDROME |
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 |
|