|
|
|---|
 |
|
Known Diseases associated with this Protein: |  ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
| ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (ECTD4)
|
|  | 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 ↕ |
|---|
| dbSNP | rs61630004 | Disease | p.ARG78HIS | Ectodermal dysplasia 4, hair/nail type (ECTD4) | | dbSNP | rs61740813 | Polymorphism | p.CYS234GLY | N/A | | Swiss-Prot | VAR_049804 | Polymorphism | p.TRP155LEU | N/A | | OMIM | 602767.0001 | Disease | p.ARG78HIS | ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE |
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 |
|
48474780
KRT85_HUMAN RecName: Full=Keratin, type II cuticular Hb5; AltName: Full=Hair keratin K2.12; AltName: Full=Keratin-85; Short=K85; AltName: Full=Type II hair keratin Hb5; AltName: Full=Type-II keratin Kb25
2
2
1
2
1
