|
|
|---|
 |
|
Known Diseases associated with this Protein: |  ICHTHYOSIS, X-LINKED
| ICHTHYOSIS, X-LINKED (IXL)
|
|  | 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_007242 | Disease | p.CYS446TYR | Ichthyosis, X-linked (IXL) | | Swiss-Prot | VAR_014023 | Disease | p.GLN560PRO | Ichthyosis, X-linked (IXL) | | Swiss-Prot | VAR_014021 | Disease | p.GLY380ARG | Ichthyosis, X-linked (IXL) | | Swiss-Prot | VAR_014022 | Disease | p.HIS444ARG | Ichthyosis, X-linked (IXL) | | Swiss-Prot | VAR_007240 | Disease | p.SER341LEU | Ichthyosis, X-linked (IXL) | | Swiss-Prot | VAR_007241 | Disease | p.TRP372ARG | Ichthyosis, X-linked (IXL) | | Swiss-Prot | VAR_014020 | Disease | p.TRP372SER | Ichthyosis, X-linked (IXL) | | OMIM | 300747.0002 | Disease | p.CYS446TYR | ICHTHYOSIS, X-LINKED | | OMIM | 300747.0005 | Disease | p.HIS444ARG | ICHTHYOSIS, X-LINKED | | OMIM | 300747.0003 | Disease | p.SER341LEU | ICHTHYOSIS, X-LINKED | | OMIM | 300747.0001 | Disease | p.TRP372ARG | ICHTHYOSIS, X-LINKED | | OMIM | 300747.0004 | Disease | p.TRP372PRO | ICHTHYOSIS, X-LINKED |
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 |
|
135006
STS_HUMAN RecName: Full=Steryl-sulfatase; AltName: Full=Arylsulfatase C; Short=ASC; AltName: Full=Steroid sulfatase; AltName: Full=Steryl-sulfate sulfohydrolase; Flags: Precursor
12
0
5
0
7
