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Known Diseases associated with this Protein: |  MICROPHTHALMIA, SYNDROMIC 3
| OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
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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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| OMIM | 184429.0013 | Disease | p.ALA191THR | OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM | | OMIM | 184429.0008 | Disease | p.ARG74PRO | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0009 | Disease | p.ASN46LYS | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0005 | Disease | p.GLN155TER | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0001 | Disease | p.GLN177TER | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0007 | Disease | p.GLN55TER | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0002 | Disease | p.GLU93TER | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0012 | Disease | p.GLY130ALA | OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM | | OMIM | 184429.0004 | Disease | p.LEU97PRO | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0017 | Disease | p.LEU82TER | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0018 | Disease | p.PHE48TER | MICROPHTHALMIA, SYNDROMIC 3 | | OMIM | 184429.0003 | Disease | p.SER83TER | MICROPHTHALMIA, SYNDROMIC 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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1351091
SOX2_HUMAN RecName: Full=Transcription factor SOX-2
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