|
|
|---|
 |
|
Known Diseases associated with this Protein: |  DESMOSTEROLOSIS
| DESMOSTEROLOSIS (DESMOS)
|
|  | 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_012733 | Disease | p.ASN294THR | Desmosterolosis (DESMOS) | | Swiss-Prot | VAR_012732 | Disease | p.GLU191LYS | Desmosterolosis (DESMOS) | | Swiss-Prot | VAR_012734 | Disease | p.LYS306ASN | Desmosterolosis (DESMOS) | | Swiss-Prot | VAR_012735 | Disease | p.TYR471SER | Desmosterolosis (DESMOS) | | OMIM | 606418.0004 | Disease | p.ARG103CYS | DESMOSTEROLOSIS | | OMIM | 606418.0005 | Disease | p.ARG94HIS | DESMOSTEROLOSIS | | OMIM | 606418.0002 | Disease | p.ASN294THR | DESMOSTEROLOSIS | | OMIM | 606418.0003 | Disease | p.GLU191LYS | DESMOSTEROLOSIS | | OMIM | 606418.0006 | Disease | p.GLU480LYS | DESMOSTEROLOSIS | | OMIM | 606418.0002 | Disease | p.LYS306ASN | DESMOSTEROLOSIS | | OMIM | 606418.0001 | Disease | p.TYR471SER | DESMOSTEROLOSIS |
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 |
|
20141421
DHC24_HUMAN RecName: Full=Delta(24)-sterol reductase; AltName: Full=24-dehydrocholesterol reductase; AltName: Full=3-beta-hydroxysterol delta-24-reductase; AltName: Full=Diminuto/dwarf1 homolog; AltName: Full=Seladin-1; Flags: Precursor
11
0
7
0
4
