Known Diseases associated with this Protein: |  PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
|
|  | 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 ↕ |
|---|
| dbSNP | rs33955793 | Polymorphism | p.ARG126HIS | N/A | | dbSNP | rs12495784 | Polymorphism | p.ARG41HIS | N/A | | OMIM | 608753.0001 | Disease | p.TYR283CYS | PONTOCEREBELLAR HYPOPLASIA, TYPE 2B |
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 |
|
223972638
tRNA-splicing endonuclease subunit Sen2 isoform 4 [Homo sapiens]
1
2
1
2
0
