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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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Swiss-Prot | VAR_003470 | Disease | p.ALA183GLY | Waardenburg syndrome 4A (WS4A) | dbSNP | rs2228271 | Polymorphism | p.ARG76MET | N/A | Swiss-Prot | VAR_003473 | Disease | p.ARG319TRP | Hirschsprung disease 2 (HSCR2) | dbSNP | rs1801710 | Polymorphism | p.GLY57SER | N/A | Swiss-Prot | VAR_014675 | Polymorphism | p.LEU7GLN | N/A | dbSNP | rs5346 | Polymorphism | p.LEU17PHE | N/A | Swiss-Prot | VAR_003474 | Disease | p.MET374ILE | Hirschsprung disease 2 (HSCR2) | Swiss-Prot | VAR_015294 | Disease | p.PHE292LEU | Waardenburg syndrome 4A (WS4A) | Swiss-Prot | VAR_014677 | Polymorphism | p.PHE112VAL | N/A | Swiss-Prot | VAR_003475 | Disease | p.PRO383LEU | Hirschsprung disease 2 (HSCR2) | Swiss-Prot | VAR_019285 | Polymorphism | p.PRO5THR | N/A | dbSNP | rs5352 | Polymorphism | p.SER305ASN | N/A | Swiss-Prot | VAR_003472 | Disease | p.SER305ASN | Hirschsprung disease 2 (HSCR2) | dbSNP | rs5350 | Polymorphism | p.THR244MET | N/A | Swiss-Prot | VAR_003471 | Disease | p.TRP276CYS | Hirschsprung disease 2 (HSCR2) | OMIM | 131244.0002 | Disease | p.ALA93GLY | WAARDENBURG SYNDROME, TYPE 4A | OMIM | 131244.0008 | Disease | p.ARG111TER | ABCD SYNDROME | OMIM | 131244.0007 | Disease | p.ARG163TER | WAARDENBURG SYNDROME, TYPE 4A | OMIM | 131244.0006 | Disease | p.SER215ASN | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 | OMIM | 131244.0001 | Disease | p.TRP186CYS | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2||WAARDENBURG SYNDROME, TYPE 4A, INCLUDED | OMIM | 131244.0003 | Disease | p.TRP185TER | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 |
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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