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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_019068 | Disease | p.ARG328CYS | Hereditary coproporphyria (HCP) | dbSNP | rs11921054 | Polymorphism | p.ARG352CYS | N/A | Swiss-Prot | VAR_019069 | Disease | p.ARG447CYS | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002160 | Disease | p.ARG331TRP | Hereditary coproporphyria (HCP) | dbSNP | rs1131857 | Polymorphism | p.ASN272HIS | N/A | Swiss-Prot | VAR_002154 | Disease | p.GLU201LYS | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_058005 | Disease | p.GLY279ARG | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002157 | Disease | p.GLY280ARG | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002152 | Disease | p.GLY189SER | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002153 | Disease | p.GLY197TRP | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002159 | Disease | p.HIS295ASP | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_023445 | Disease | p.LEU214ARG | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002162 | Disease | p.LYS404GLU | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_023446 | Disease | p.PRO249ARG | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002155 | Disease | p.PRO249SER | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_019067 | Disease | p.SER208PHE | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_002163 | Disease | p.TRP427ARG | Hereditary coproporphyria (HCP) | Swiss-Prot | VAR_023444 | Disease | p.VAL135ALA | Hereditary coproporphyria (HCP) | dbSNP | rs2228056 | Polymorphism | p.VAL294ILE | N/A | OMIM | 612732.0011 | Disease | p.ARG328CYS | COPROPORPHYRIA | OMIM | 612732.0009 | Disease | p.ARG447CYS | COPROPORPHYRIA | OMIM | 612732.0001 | Disease | p.ARG331TRP | COPROPORPHYRIA | OMIM | 612732.0008 | Disease | p.GLN29TER | COPROPORPHYRIA | OMIM | 612732.0013 | Disease | p.GLY279ARG | COPROPORPHYRIA, DIGENIC | OMIM | 612732.0006 | Disease | p.HIS295ASP | COPROPORPHYRIA | OMIM | 612732.0003 | Disease | p.LYS404GLU | HARDEROPORPHYRIA | OMIM | 612732.0010 | Disease | p.SER208PHE | COPROPORPHYRIA |
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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