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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 | rs3826550 | Polymorphism | p.ALA94THR | N/A | dbSNP | rs6503640 | Polymorphism | p.CYS63TYR | N/A | dbSNP | rs61729636 | Polymorphism | p.GLY72SER | N/A | OMIM | 148066.0002 | Disease | p.ARG125CYS | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | OMIM | 148066.0003 | Disease | p.ARG125HIS | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | OMIM | 148066.0018 | Disease | p.ASN123SER | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | OMIM | 148066.0016 | Disease | p.CYS18TER | DERMATOPATHIA PIGMENTOSA RETICULARIS | OMIM | 148066.0004 | Disease | p.GLU144ALA | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 | OMIM | 148066.0013 | Disease | p.GLU422LYS | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | OMIM | 148066.0012 | Disease | p.LEU419GLN | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | OMIM | 148066.0001 | Disease | p.LEU384PRO | EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED | OMIM | 148066.0007 | Disease | p.MET272ARG | EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED | OMIM | 148066.0010 | Disease | p.MET119ILE | EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED||EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1, INCLUDED | OMIM | 148066.0009 | Disease | p.MET119THR | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | OMIM | 148066.0011 | Disease | p.TYR415HIS | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | OMIM | 148066.0006 | Disease | p.TYR204TER | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 |
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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