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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 | rs6438 | Polymorphism | p.ALA29THR | N/A | Swiss-Prot | VAR_014152 | Polymorphism | p.ARG30GLN | N/A | Swiss-Prot | VAR_001267 | Disease | p.ARG181TRP | Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) | dbSNP | rs4537 | Polymorphism | p.ASN281SER | N/A | Swiss-Prot | VAR_014643 | Polymorphism | p.ASN222THR | N/A | Swiss-Prot | VAR_001268 | Disease | p.GLU198ASP | Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) | Swiss-Prot | VAR_014644 | Polymorphism | p.GLU383VAL | N/A | dbSNP | rs4545 | Polymorphism | p.GLY435SER | N/A | Swiss-Prot | VAR_014153 | Polymorphism | p.ILE248THR | N/A | dbSNP | rs4544 | Polymorphism | p.ILE339THR | N/A | Swiss-Prot | VAR_018472 | Disease | p.LEU461PRO | Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) | dbSNP | rs4539 | Polymorphism | p.LYS173ARG | N/A | Swiss-Prot | VAR_014646 | Polymorphism | p.PHE487VAL | N/A | Swiss-Prot | VAR_018473 | Disease | p.THR498ALA | Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) | Swiss-Prot | VAR_018471 | Disease | p.THR185ILE | Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) | dbSNP | rs61757294 | Disease | p.VAL386ALA | Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) | Swiss-Prot | VAR_014645 | Polymorphism | p.VAL403GLU | N/A | OMIM | 124080.0001 | Disease | p.ARG181TRP | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | OMIM | 124080.0002 | Disease | p.GLU198ASP | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | OMIM | 124080.0006 | Disease | p.GLU255TER | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | OMIM | 124080.0013 | Disease | p.GLU272TER | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | OMIM | 124080.0005 | Disease | p.LEU461PRO | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | OMIM | 124080.0012 | Disease | p.THR498ALA | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | OMIM | 124080.0007 | Disease | p.THR185ILE | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | OMIM | 124080.0001 124080.0002 | Disease | p.VAL386ALA | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY |
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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