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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_070214 | Disease | p.ASN816SER | Left ventricular non-compaction 8 (LVNC8) | Swiss-Prot | VAR_070212 | Disease | p.GLU271LYS | Cardiomyopathy, dilated 1LL (CMD1LL) | Swiss-Prot | VAR_070215 | Disease | p.LEU887PRO | Cardiomyopathy, dilated 1LL (CMD1LL) | Swiss-Prot | VAR_070213 | Disease | p.PRO291LEU | Cardiomyopathy, dilated 1LL (CMD1LL) | dbSNP | rs2493292 | Polymorphism | p.PRO633LEU | N/A | dbSNP | rs870124 | Polymorphism | p.SER533PRO | N/A | Swiss-Prot | VAR_070216 | Disease | p.VAL1101MET | Cardiomyopathy, dilated 1LL (CMD1LL) | OMIM | 605557.0003 | Disease | p.ASN816SER | LEFT VENTRICULAR NONCOMPACTION 8 | OMIM | 605557.0006 | Disease | p.LEU887PRO | CARDIOMYOPATHY, DILATED, 1LL | OMIM | 605557.0001 | Disease | p.LYS702TER | LEFT VENTRICULAR NONCOMPACTION 8 | OMIM | 605557.0005 | Disease | p.PRO291LEU | CARDIOMYOPATHY, DILATED, 1LL | OMIM | 605557.0004 | Disease | p.VAL1101MET | CARDIOMYOPATHY, DILATED, 1LL |
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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