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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 | 600037.0002 | Disease | p.ARG89GLY | MICROPHTHALMIA, SYNDROMIC 5 | | OMIM | 600037.0011 | Disease | p.ARG90SER | MICROPHTHALMIA, SYNDROMIC 5 | | OMIM | 600037.0006 | Disease | p.ASN233SER | PITUITARY HORMONE DEFICIENCY, COMBINED 6 | | OMIM | 600037.0010 | Disease | p.GLY188TER | MICROPHTHALMIA, SYNDROMIC 5 | | OMIM | 600037.0008 | Disease | p.SER138TER | RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION | | OMIM | 600037.0004 | Disease | p.TYR179TER | MICROPHTHALMIA, SYNDROMIC 5 |
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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395455075
homeobox protein OTX2 isoform a [Homo sapiens]
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