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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs115331762 | Polymorphism | p.ALA582THR | N/A | | dbSNP | rs736118 | Polymorphism | p.MET518ILE | N/A | | OMIM | 610745.0003 | Disease | p.ARG607CYS | MICROPHTHALMIA, SYNDROMIC 9 | | OMIM | 610745.0013 | Disease | p.ARG607HIS | MICROPHTHALMIA, SYNDROMIC 9 | | OMIM | 610745.0012 | Disease | p.ASP512HIS | MICROPHTHALMIA, SYNDROMIC 9 | | OMIM | 610745.0011 | Disease | p.GLY256LYS | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8||MICROPHTHALMIA, SYNDROMIC 9, INCLUDED | | OMIM | 610745.0001 | Disease | p.PRO245LEU | MICROPHTHALMIA, SYNDROMIC 9 | | OMIM | 610745.0005 | Disease | p.PRO51LEU | MICROPHTHALMIA, SYNDROMIC 9 | | OMIM | 610745.0004 | Disease | p.THR596MET | MICROPHTHALMIA, SYNDROMIC 9 | | OMIM | 610745.0006 | Disease | p.THR273PRO | MICROPHTHALMIA, SYNDROMIC 9 |
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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stimulated by retinoic acid gene 6 protein homolog isoform b [Homo sapiens]
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