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Known Diseases associated with this Protein: |  MICROPHTHALMIA, ISOLATED, WITH CATARACT 2
| MICROPHTHALMIA, ISOLATED, WITH CATARACT, 2 (MCOPCT2)
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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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| dbSNP | rs33912345 | Polymorphism | p.HIS141ASN | N/A | | Swiss-Prot | VAR_026241 | Disease | p.THR165ALA | Microphthalmia, isolated, with cataract, 2 (MCOPCT2) | | OMIM | 606326.0001 | Disease | p.THR165ALA | MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 |
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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115502450
SIX6_HUMAN RecName: Full=Homeobox protein SIX6; AltName: Full=Homeodomain protein OPTX2; AltName: Full=Optic homeobox 2; AltName: Full=Sine oculis homeobox homolog 6
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