|
|
|---|
 |
|
Known Diseases associated with this Protein: |  NEUROFIBROMATOSIS, FAMILIAL SPINAL, INCLUDED
| NEUROFIBROMATOSIS, TYPE I
|
|  | 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 | 613113.0046 | Disease | p.ARG192TER | NEUROFIBROMATOSIS, TYPE I | | OMIM | 613113.0004 | Disease | p.ARG365TER | NEUROFIBROMATOSIS, TYPE I | | OMIM | 613113.0003 | Disease | p.LEU348PRO | NEUROFIBROMATOSIS, TYPE I | | OMIM | 613113.0038 | Disease | p.LEU357PRO | NEUROFIBROMATOSIS, TYPE I||NEUROFIBROMATOSIS, FAMILIAL SPINAL, INCLUDED | | OMIM | 613113.0024 | Disease | p.LEU508PRO | NEUROFIBROMATOSIS, TYPE I | | OMIM | 613113.0023 | Disease | p.TYR489CYS | NEUROFIBROMATOSIS, TYPE I |
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 |
|
189458804
neurofibromin isoform 3 [Homo sapiens]
6
0
6
0
0
