|
|
|---|
 |
|
Known Diseases associated with this Protein: |  HYPERCALCEMIA, INFANTILE
|
|  | 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 ↕ |
|---|
| p450 | pfam00067 | 1.9e-41 | 58 | 447 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs6022990 | Polymorphism | p.MET374THR | N/A | | OMIM | 126065.0004 | Disease | p.ARG159GLN | HYPERCALCEMIA, INFANTILE | | OMIM | 126065.0005 | Disease | p.ARG396TRP | HYPERCALCEMIA, INFANTILE | | OMIM | 126065.0007 | Disease | p.GLU322LYS | HYPERCALCEMIA, INFANTILE | | OMIM | 126065.0003 | Disease | p.GLU151TER | HYPERCALCEMIA, INFANTILE | | OMIM | 126065.0006 | Disease | p.LEU409SER | HYPERCALCEMIA, INFANTILE |
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 |
|
193083117
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor [Homo sapiens]
5
1
5
1
0
