Known Diseases associated with this Protein: |  ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
|
|  | 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 ↕ |
|---|
| dbSNP | rs34626929 | Polymorphism | p.ARG116HIS | N/A | | dbSNP | rs34704938 | Polymorphism | p.CYS161TYR | N/A | | dbSNP | rs35507614 | Polymorphism | p.ILE196VAL | N/A | | dbSNP | rs1779297 | Polymorphism | p.LYS260ASN | N/A | | OMIM | 601975.0001 | Disease | p.GLN304TER | ECTODERMAL DYSPLASIA/SKIN FRAGILITY 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 |
|
53729344
plakophilin-1 isoform 1a [Homo sapiens]
1
4
1
4
0
