|
|
|---|
 |
|
Known Diseases associated with this Protein: |  ICHTHYOSIS PREMATURITY SYNDROME
| ICHTHYOSIS PREMATURITY SYNDROME (IPS)
|
|  | 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_063192 | Disease | p.ALA92THR | Ichthyosis prematurity syndrome (IPS) | | Swiss-Prot | VAR_064500 | Disease | p.ARG374CYS | Ichthyosis prematurity syndrome (IPS) | | Swiss-Prot | VAR_063195 | Disease | p.ARG583HIS | Ichthyosis prematurity syndrome (IPS) | | Swiss-Prot | VAR_063194 | Disease | p.GLN300ARG | Ichthyosis prematurity syndrome (IPS) | | dbSNP | rs2240953 | Polymorphism | p.GLY209SER | N/A | | Swiss-Prot | VAR_063193 | Disease | p.SER247PRO | Ichthyosis prematurity syndrome (IPS) | | OMIM | 604194.0003 | Disease | p.ALA92THR | ICHTHYOSIS PREMATURITY SYNDROME | | OMIM | 604194.0007 | Disease | p.ARG583HIS | ICHTHYOSIS PREMATURITY SYNDROME | | OMIM | 604194.0001 | Disease | p.CYS168TER | ICHTHYOSIS PREMATURITY SYNDROME | | OMIM | 604194.0005 | Disease | p.GLN300ARG | ICHTHYOSIS PREMATURITY SYNDROME | | OMIM | 604194.0004 | Disease | p.SER247PRO | ICHTHYOSIS PREMATURITY 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 |
|
74749065
S27A4_HUMAN RecName: Full=Long-chain fatty acid transport protein 4; Short=FATP-4; Short=Fatty acid transport protein 4; AltName: Full=Solute carrier family 27 member 4
10
1
5
1
5
