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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_005208 | Disease | p.ALA134ASP | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_065454 | Disease | p.ALA35THR | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005223 | Disease | p.ARG381GLY | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005219 | Disease | p.ARG341TRP | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005205 | Disease | p.ASN16ILE | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005213 | Disease | p.ASP233VAL | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005211 | Disease | p.CYS193ARG | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_065455 | Disease | p.GLN279ARG | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005207 | Disease | p.GLN64HIS | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005209 | Disease | p.GLY158ASP | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005212 | Disease | p.GLY207ASP | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005218 | Disease | p.GLY337SER | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005222 | Disease | p.GLY369VAL | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005206 | Disease | p.PHE62CYS | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005224 | Disease | p.PHE405HIS | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005216 | Disease | p.PRO261LEU | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005220 | Disease | p.PRO342LEU | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005215 | Disease | p.PRO249THR | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005217 | Disease | p.THR294PRO | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005214 | Disease | p.TRP234GLY | Tyrosinemia 1 (TYRO1) | Swiss-Prot | VAR_005210 | Disease | p.VAL166GLY | Tyrosinemia 1 (TYRO1) | OMIM | 613871.0002 | Disease | p.ALA134ASP | TYROSINEMIA, TYPE I | OMIM | 613871.0008 | Disease | p.ARG381GLY | TYROSINEMIA, TYPE I | OMIM | 613871.0006 | Disease | p.ARG341TRP | FUMARYLACETOACETASE PSEUDODEFICIENCY | OMIM | 613871.0001 | Disease | p.ASN16ILE | TYROSINEMIA, TYPE I | OMIM | 613871.0011 | Disease | p.GLN279ARG | TYROSINEMIA, TYPE I | OMIM | 613871.0007 | Disease | p.GLU337SER | TYROSINEMIA, TYPE I | OMIM | 613871.0004 | Disease | p.GLU357TER | TYROSINEMIA, TYPE I | OMIM | 613871.0005 | Disease | p.GLU364TER | TYROSINEMIA, TYPE I | OMIM | 613871.0009 | Disease | p.TRP262TER | TYROSINEMIA, TYPE I |
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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