|
|
|---|
 |
|
Known Diseases associated with this Protein: |  CRANIOECTODERMAL DYSPLASIA 1
|
|  | 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 ↕ |
|---|
| WD40 | smart00320 | 0.00032 | 199 | 238 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs111401191 | Polymorphism | p.ARG576GLN | N/A | | dbSNP | rs61746791 | Polymorphism | p.TYR464ASN | N/A | | OMIM | 606045.0002 | Disease | p.SER211PHE | CRANIOECTODERMAL DYSPLASIA 1 | | OMIM | 606045.0004 | Disease | p.TRP7CYS | CRANIOECTODERMAL DYSPLASIA 1 | | OMIM | 606045.0001 | Disease | p.VAL391GLY | CRANIOECTODERMAL DYSPLASIA 1 |
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 |
|
16554625
intraflagellar transport protein 122 homolog isoform 4 [Homo sapiens]
3
2
3
2
0
