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Known Diseases associated with this Protein: |  MICROPHTHALMIA, ISOLATED 3
| MICROPHTHALMIA, ISOLATED, 3 (MCOP3)
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|  | 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. |
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 Default View:
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_034905 | Disease | p.ARG192GLN | Microphthalmia, isolated, 3 (MCOP3) | | dbSNP | rs2271733 | Polymorphism | p.ASP44GLU | N/A | | OMIM | 601881.0002 | Disease | p.ARG192GLU | MICROPHTHALMIA, ISOLATED 3 | | OMIM | 601881.0001 | Disease | p.GLN147TER | MICROPHTHALMIA, ISOLATED 3 | | OMIM | 601881.0004 | Disease | p.TYR303TER | MICROPHTHALMIA, ISOLATED 3 |
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 |
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296452886
RX_HUMAN RecName: Full=Retinal homeobox protein Rx; AltName: Full=Retina and anterior neural fold homeobox protein
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