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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_013056 | Polymorphism | p.ALA406THR | N/A | Swiss-Prot | VAR_013065 | Polymorphism | p.ARG1411CYS | N/A | Swiss-Prot | VAR_069093 | Disease | p.ASP651ASN | Charcot-Marie-Tooth disease 4F (CMT4F) | Swiss-Prot | VAR_013057 | Polymorphism | p.GLU495GLN | N/A | Swiss-Prot | VAR_013063 | Polymorphism | p.GLU1259LYS | N/A | Swiss-Prot | VAR_013062 | Polymorphism | p.GLY1132ARG | N/A | dbSNP | rs268673 | Polymorphism | p.ILE921MET | N/A | Swiss-Prot | VAR_013060 | Polymorphism | p.LYS935GLU | N/A | dbSNP | rs61735531 | Polymorphism | p.MET673VAL | N/A | Swiss-Prot | VAR_013061 | Polymorphism | p.PRO1083ARG | N/A | dbSNP | rs268671 | Polymorphism | p.VAL882ALA | N/A | OMIM | 605725.0008 | Disease | p.ARG1070TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F | OMIM | 605725.0005 | Disease | p.ARG196TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F | OMIM | 605725.0003 | Disease | p.ARG368TER | DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE | OMIM | 605725.0001 | Disease | p.ARG953TER | DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE | OMIM | 605725.0011 | Disease | p.ASP651ASN | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET | OMIM | 605725.0006 | Disease | p.CYS715TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F |
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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