|
|
|---|
 |
|
Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
|
|  | 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 ↕ |
|---|
| OMIM | 610982.0002 | Disease | p.ARG218GLN | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | | OMIM | 610982.0004 | Disease | p.ARG214HIS | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | | OMIM | 610982.0003 | Disease | p.ARG218TRP | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | | OMIM | 610982.0006 | Disease | p.CYS104ARG | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | | OMIM | 610982.0007 | Disease | p.CYS104PHE | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | | OMIM | 610982.0008 | Disease | p.CYS104TRP | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | | OMIM | 610982.0010 | Disease | p.LEU132ARG | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | | OMIM | 610982.0009 | Disease | p.LEU128PRO | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | | OMIM | 610982.0005 | Disease | p.LEU42PRO | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | | OMIM | 610982.0001 | Disease | p.SER186PRO | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 |
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 |
|
14249316
inverted formin-2 isoform 3 [Homo sapiens]
10
0
10
0
0
