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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 | rs11993776 | Polymorphism | p.ALA403GLY | N/A | dbSNP | rs16873741 | Polymorphism | p.ALA1055VAL | N/A | dbSNP | rs2920048 | Polymorphism | p.GLU782ASP | N/A | Swiss-Prot | VAR_017942 | Disease | p.GLU30GLY | Tetralogy of Fallot (TOF) | dbSNP | rs28374544 | Disease | p.SER657GLY | Tetralogy of Fallot (TOF) | OMIM | 603693.0003 | Disease | p.ARG112TER | DIAPHRAGMATIC HERNIA 3 | OMIM | 603693.0002 | Disease | p.GLU30GLY | TETRALOGY OF FALLOT||DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED | OMIM | 603693.0006 | Disease | p.ILE227MET | DOUBLE-OUTLET RIGHT VENTRICLE | OMIM | 603693.0008 | Disease | p.LYS737GLU | DOUBLE-OUTLET RIGHT VENTRICLE | OMIM | 603693.0007 | Disease | p.MET544ILE | TETRALOGY OF FALLOT | OMIM | 603693.0004 | Disease | p.MET703LEU | DIAPHRAGMATIC HERNIA 3||DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED | OMIM | 603693.0001 | Disease | p.SER657GLY | TETRALOGY OF FALLOT | OMIM | 603693.0005 | Disease | p.THR843ALA | DIAPHRAGMATIC HERNIA 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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