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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 Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_063012 | Disease | p.ARG378CYS | Joubert syndrome 1 (JBTS1) | Swiss-Prot | VAR_063013 | Disease | p.ARG435GLN | Joubert syndrome 1 (JBTS1) | Swiss-Prot | VAR_063016 | Disease | p.ARG563HIS | Joubert syndrome 1 (JBTS1) | Swiss-Prot | VAR_063014 | Disease | p.ARG512TRP | Joubert syndrome 1 (JBTS1) | Swiss-Prot | VAR_063015 | Disease | p.ARG515TRP | Joubert syndrome 1 (JBTS1) | Swiss-Prot | VAR_047078 | Polymorphism | p.ILE201MET | N/A | Swiss-Prot | VAR_063017 | Disease | p.LYS580GLU | Joubert syndrome 1 (JBTS1) | OMIM | 613037.0005 | Disease | p.ARG378CYS | JOUBERT SYNDROME 1 | OMIM | 613037.0004 | Disease | p.ARG435GLN | JOUBERT SYNDROME 1 | OMIM | 613037.0003 | Disease | p.ARG563HIS | JOUBERT SYNDROME 1 | OMIM | 613037.0002 | Disease | p.ARG515TRP | JOUBERT SYNDROME 1 | OMIM | 613037.0001 | Disease | p.GLN627TER | MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS |
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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