|
|
|---|
 |
|
Known Diseases associated with this Protein: |  MONILETHRIX
| MONILETHRIX (MLTRX)
|
|  | 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_018115 | Polymorphism | p.ARG316CYS | N/A | | Swiss-Prot | VAR_018116 | Disease | p.GLU402LYS | Monilethrix (MLTRX) | | Swiss-Prot | VAR_018117 | Disease | p.GLU413LYS | Monilethrix (MLTRX) | | Swiss-Prot | VAR_018113 | Polymorphism | p.GLY52ARG | N/A | | dbSNP | rs6580873 | Polymorphism | p.LEU248ARG | N/A | | dbSNP | rs79897879 | Polymorphism | p.SER13ARG | N/A | | OMIM | 602153.0002 | Disease | p.GLU402LYS | MONILETHRIX | | OMIM | 602153.0001 | Disease | p.GLU413LYS | MONILETHRIX |
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 |
|
311033435
KRT81_HUMAN RecName: Full=Keratin, type II cuticular Hb1; AltName: Full=Hair keratin K2.9; AltName: Full=Keratin, hair, basic, 1; AltName: Full=Keratin-81; Short=K81; AltName: Full=Metastatic lymph node 137 gene protein; Short=MLN 137; AltName: Full=Type II hair keratin Hb1; AltName: Full=Type-II keratin Kb21; AltName: Full=ghHKb1; Short=ghHb1
4
4
2
2
4
