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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs115331762 | Polymorphism | p.ALA591THR | N/A | Swiss-Prot | VAR_037175 | Disease | p.ARG655CYS | Microphthalmia, syndromic, 9 (MCOPS9) | Swiss-Prot | VAR_060205 | Polymorphism | p.ARG638PRO | N/A | Swiss-Prot | VAR_060204 | Polymorphism | p.GLN438ARG | N/A | Swiss-Prot | VAR_060203 | Polymorphism | p.GLY217GLU | N/A | Swiss-Prot | VAR_066849 | Disease | p.GLY304LYS | Microphthalmia, syndromic, 9 (MCOPS9) | Swiss-Prot | VAR_037171 | Polymorphism | p.GLY339SER | N/A | Swiss-Prot | VAR_037172 | Polymorphism | p.LEU517PHE | N/A | dbSNP | rs736118 | Polymorphism | p.MET527ILE | N/A | Swiss-Prot | VAR_037169 | Disease | p.PRO293LEU | Microphthalmia, syndromic, 9 (MCOPS9) | Swiss-Prot | VAR_037168 | Disease | p.PRO90LEU | Microphthalmia, syndromic, 9 (MCOPS9) | Swiss-Prot | VAR_037174 | Disease | p.THR644MET | Microphthalmia, syndromic, 9 (MCOPS9) | Swiss-Prot | VAR_037170 | Disease | p.THR321PRO | Microphthalmia, syndromic, 9 (MCOPS9) | OMIM | 610745.0003 | Disease | p.ARG616CYS | MICROPHTHALMIA, SYNDROMIC 9 | OMIM | 610745.0013 | Disease | p.ARG616HIS | MICROPHTHALMIA, SYNDROMIC 9 | OMIM | 610745.0012 | Disease | p.ASP521HIS | MICROPHTHALMIA, SYNDROMIC 9 | OMIM | 610745.0011 | Disease | p.GLY265LYS | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8||MICROPHTHALMIA, SYNDROMIC 9, INCLUDED | OMIM | 610745.0001 | Disease | p.PRO254LEU | MICROPHTHALMIA, SYNDROMIC 9 | OMIM | 610745.0005 | Disease | p.PRO51LEU | MICROPHTHALMIA, SYNDROMIC 9 | OMIM | 610745.0004 | Disease | p.THR605MET | MICROPHTHALMIA, SYNDROMIC 9 | OMIM | 610745.0006 | Disease | p.THR282PRO | 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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