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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_064831 | Disease | p.ARG358GLN | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_013450 | Disease | p.ARG420GLN | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_064830 | Disease | p.ARG98GLN | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054447 | Disease | p.ARG375HIS | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_013449 | Disease | p.ARG89HIS | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054445 | Disease | p.ASP110ALA | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054446 | Disease | p.CYS148ARG | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_013448 | Disease | p.CYS87ARG | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054444 | Disease | p.CYS47TYR | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054449 | Disease | p.GLY382SER | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_064833 | Disease | p.ILE408PHE | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054452 | Disease | p.ILE418THR | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054448 | Disease | p.LEU377PHE | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | dbSNP | rs61761321 | Polymorphism | p.MET107VAL | N/A | Swiss-Prot | VAR_054450 | Disease | p.THR403MET | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054451 | Disease | p.THR413PRO | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_064834 | Disease | p.TRP434ARG | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | Swiss-Prot | VAR_054453 | Disease | p.TRP434CYS | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) | dbSNP | rs3827760 | Polymorphism | p.VAL370ALA | N/A | OMIM | 604095.0006 | Disease | p.ARG420GLN | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT | OMIM | 604095.0008 | Disease | p.ARG375HIS | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE | OMIM | 604095.0002 | Disease | p.ARG89HIS | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE||ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAI | OMIM | 604095.0005 | Disease | p.ARG358TER | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT | OMIM | 604095.0009 | Disease | p.ASP110ALA | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE | OMIM | 604095.0004 | Disease | p.CYS87ARG | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE | OMIM | 604095.0010 | Disease | p.GLU354TER | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT | OMIM | 604095.0011 | Disease | p.VAL370ALA | HAIR MORPHOLOGY 1, HAIR THICKNESS |
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.
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