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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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| Swiss-Prot | VAR_064835 | Disease | p.ASP114TYR | Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) | | Swiss-Prot | VAR_013482 | Disease | p.GLU152LYS | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) | | Swiss-Prot | VAR_054510 | Disease | p.LEU122ARG | Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) | | dbSNP | rs966365 | Polymorphism | p.MET9ILE | N/A | | Swiss-Prot | VAR_054509 | Polymorphism | p.SER103PHE | N/A | | OMIM | 606603.0001 | Disease | p.GLU142LYS | ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE | | OMIM | 606603.0002 | Disease | p.LEU112ARG | ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT |
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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212276512
EDAD_HUMAN RecName: Full=Ectodysplasin-A receptor-associated adapter protein; AltName: Full=EDAR-associated death domain protein; AltName: Full=Protein crinkled homolog
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