|
|
|
|
Known Diseases associated with this Protein: | FEINGOLD SYNDROME
| FEINGOLD SYNDROME 1 (FGLDS1)
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_031952 | Disease | p.ARG393HIS | Feingold syndrome 1 (FGLDS1) | Swiss-Prot | VAR_031954 | Disease | p.ARG394HIS | Feingold syndrome 1 (FGLDS1) | Swiss-Prot | VAR_031953 | Disease | p.ARG393SER | Feingold syndrome 1 (FGLDS1) | OMIM | 164840.0006 | Disease | p.ARG382HIS | FEINGOLD SYNDROME | OMIM | 164840.0001 | Disease | p.ARG393HIS | FEINGOLD SYNDROME | OMIM | 164840.0003 | Disease | p.ARG394HIS | FEINGOLD SYNDROME | OMIM | 164840.0002 | Disease | p.ARG393SER | FEINGOLD SYNDROME | OMIM | 164840.0004 | Disease | p.GLU73TER | FEINGOLD SYNDROME | OMIM | 164840.0007 | Disease | p.TRP77TER | FEINGOLD 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 |
|