|
|
|---|
 |
|
Known Diseases associated with this Protein: |  CLEIDOCRANIAL DYSPLASIA
| CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
|
|  | 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 ↕ |
|---|
| RunxI | pfam08504 | 3.4e-53 | 405 | 499 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| OMIM | 600211.0008 | Disease | p.ARG225GLN | CLEIDOCRANIAL DYSPLASIA | | OMIM | 600211.0012 | Disease | p.ARG169PRO | CLEIDOCRANIAL DYSPLASIA | | OMIM | 600211.0009 | Disease | p.ARG225TRP | CLEIDOCRANIAL DYSPLASIA | | OMIM | 600211.0004 | Disease | p.MET175ARG | CLEIDOCRANIAL DYSPLASIA | | OMIM | 600211.0005 | Disease | p.SER191ASN | CLEIDOCRANIAL DYSPLASIA | | OMIM | 600211.0011 | Disease | p.TER500SER | CLEIDOCRANIAL DYSPLASIA | | OMIM | 600211.0010 | Disease | p.THR200ALA | CLEIDOCRANIAL DYSPLASIA||CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED | | OMIM | 600211.0002 | Disease | p.TRP283TER | CLEIDOCRANIAL DYSPLASIA |
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 |
|
226442791
runt-related transcription factor 2 isoform b [Homo sapiens]
8
0
8
0
0
