|
|
|---|
 |
|
Known Diseases associated with this Protein: |  MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES (MCOPCTI)
| MICROPHTHALMIA, ISOLATED, 2 (MCOP2)
|
|  | 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 ↕ |
|---|
| Swiss-Prot | VAR_011619 | Disease | p.ARG200GLN | Microphthalmia with cataracts and iris abnormalities (MCOPCTI) | | Swiss-Prot | VAR_011618 | Disease | p.ARG200PRO | Microphthalmia with cataracts and iris abnormalities (MCOPCTI) | | Swiss-Prot | VAR_029357 | Disease | p.ARG227TRP | Microphthalmia, isolated, 2 (MCOP2) | | Swiss-Prot | VAR_067269 | Disease | p.GLY223ALA | Microphthalmia, isolated, 2 (MCOP2) | | dbSNP | rs35214083 | Polymorphism | p.PRO100GLN | N/A |
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 |
|
17374365
VSX2_HUMAN RecName: Full=Visual system homeobox 2; AltName: Full=Ceh-10 homeodomain-containing homolog; AltName: Full=Homeobox protein CHX10
4
1
0
1
4
