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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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Swiss-Prot | VAR_054499 | Disease | p.ASN469TYR | Dyggve-Melchior-Clausen syndrome (DMC) | Swiss-Prot | VAR_065293 | Disease | p.CYS542ARG | Smith-McCort dysplasia 1 (SMC1) | Swiss-Prot | VAR_022740 | Disease | p.GLU87LYS | Smith-McCort dysplasia 1 (SMC1) | OMIM | 607461.0004 | Disease | p.ASN469TYR | DYGGVE-MELCHIOR-CLAUSEN DISEASE | OMIM | 607461.0010 | Disease | p.CYS542ARG | SMITH-McCORT DYSPLASIA 1 | OMIM | 607461.0006 | Disease | p.GLU87LYS | SMITH-MCCORT DYSPLASIA 1 | OMIM | 607461.0003 | Disease | p.TYR132TER | DYGGVE-MELCHIOR-CLAUSEN DISEASE | OMIM | 607461.0001 | Disease | p.TYR16TER | DYGGVE-MELCHIOR-CLAUSEN DISEASE |
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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