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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_065643 | Polymorphism | p.ALA205THR | N/A | Swiss-Prot | VAR_065630 | Polymorphism | p.ARG86GLY | N/A | Swiss-Prot | VAR_007922 | Disease | p.ARG297LYS | Peutz-Jeghers syndrome (PJS) | Swiss-Prot | VAR_041139 | Polymorphism | p.ARG87LYS | N/A | Swiss-Prot | VAR_065639 | Polymorphism | p.ASN181GLU | N/A | Swiss-Prot | VAR_007921 | Disease | p.ASP194ASN | Peutz-Jeghers syndrome (PJS) | Swiss-Prot | VAR_065644 | Polymorphism | p.ASP208ASN | N/A | Swiss-Prot | VAR_065637 | Polymorphism | p.ASP176TYR | N/A | Swiss-Prot | VAR_033141 | Polymorphism | p.ASP194TYR | N/A | Swiss-Prot | VAR_065654 | Polymorphism | p.ASP277TYR | N/A | Swiss-Prot | VAR_065640 | Polymorphism | p.ASP194VAL | N/A | Swiss-Prot | VAR_065631 | Polymorphism | p.GLN123ARG | N/A | Swiss-Prot | VAR_065634 | Polymorphism | p.GLN170PRO | N/A | Swiss-Prot | VAR_065642 | Polymorphism | p.GLU199GLN | N/A | Swiss-Prot | VAR_065628 | Disease | p.GLU16GLY | Peutz-Jeghers syndrome (PJS) | Swiss-Prot | VAR_065627 | Polymorphism | p.GLU14LYS | N/A | Swiss-Prot | VAR_065641 | Polymorphism | p.GLU199LYS | N/A | Swiss-Prot | VAR_065647 | Polymorphism | p.GLU223VAL | N/A | Swiss-Prot | VAR_033139 | Polymorphism | p.GLY135ARG | N/A | Swiss-Prot | VAR_033140 | Disease | p.GLY163ASP | Testicular germ cell tumor (TGCT) | Swiss-Prot | VAR_065645 | Polymorphism | p.GLY215ASP | N/A | Swiss-Prot | VAR_065635 | Polymorphism | p.GLY171SER | N/A | Swiss-Prot | VAR_065636 | Polymorphism | p.HIS174ARG | N/A | Swiss-Prot | VAR_065638 | Polymorphism | p.ILE177ASN | N/A | Swiss-Prot | VAR_065651 | Polymorphism | p.LEU245ARG | N/A | Swiss-Prot | VAR_065656 | Polymorphism | p.LEU285GLN | N/A | Swiss-Prot | VAR_065633 | Polymorphism | p.LEU160PRO | N/A | Swiss-Prot | VAR_006202 | Disease | p.LEU67PRO | Peutz-Jeghers syndrome (PJS) | Swiss-Prot | VAR_065649 | Polymorphism | p.PHE231LEU | N/A | dbSNP | rs59912467 | Polymorphism | p.PHE354LEU | N/A | Swiss-Prot | VAR_065632 | Polymorphism | p.PHE157SER | N/A | Swiss-Prot | VAR_065657 | Polymorphism | p.PRO314HIS | N/A | Swiss-Prot | VAR_065655 | Polymorphism | p.PRO281LEU | N/A | Swiss-Prot | VAR_065658 | Polymorphism | p.PRO324LEU | N/A | Swiss-Prot | VAR_033144 | Disease | p.PRO315SER | Peutz-Jeghers syndrome (PJS) | Swiss-Prot | VAR_065646 | Polymorphism | p.SER216PHE | N/A | Swiss-Prot | VAR_065650 | Polymorphism | p.SER232PRO | N/A | Swiss-Prot | VAR_065660 | Polymorphism | p.THR367MET | N/A | Swiss-Prot | VAR_065648 | Polymorphism | p.THR230PRO | N/A | Swiss-Prot | VAR_065652 | Polymorphism | p.THR250PRO | N/A | Swiss-Prot | VAR_033142 | Disease | p.TRP239CYS | Peutz-Jeghers syndrome (PJS) | Swiss-Prot | VAR_033138 | Polymorphism | p.TYR49ASP | N/A | Swiss-Prot | VAR_065653 | Polymorphism | p.TYR272HIS | N/A | Swiss-Prot | VAR_065629 | Polymorphism | p.VAL66MET | N/A | OMIM | 602216.0013 | Disease | p.ASP194TYR | MELANOMA, MALIGNANT, SOMATIC | OMIM | 602216.0018 | Disease | p.GLU170TER | MELANOMA, MALIGNANT, SOMATIC | OMIM | 602216.0010 | Disease | p.GLU57TER | PEUTZ-JEGHERS SYNDROME | OMIM | 602216.0020 | Disease | p.GLY135ARG | MELANOMA, MALIGNANT, SOMATIC | OMIM | 602216.0011 | Disease | p.GLY163ASP | TESTICULAR TUMOR, SOMATIC | OMIM | 602216.0008 | Disease | p.LEU67PRO | PEUTZ-JEGHERS SYNDROME | OMIM | 602216.0006 | Disease | p.LYS84TER | PEUTZ-JEGHERS SYNDROME | OMIM | 602216.0024 | Disease | p.PHE354LEU | PEUTZ-JEGHERS SYNDROME | OMIM | 602216.0021 | Disease | p.TRP239CYS | PEUTZ-JEGHERS SYNDROME | OMIM | 602216.0019 | Disease | p.TYR49ASP | MELANOMA, MALIGNANT, SOMATIC | OMIM | 602216.0023 | Disease | p.TYR246TER | PEUTZ-JEGHERS SYNDROME | OMIM | 602216.0002 | Disease | p.TYR253TER | PEUTZ-JEGHERS SYNDROME | OMIM | 602216.0015 | Disease | p.TYR36TER | PANCREATIC CANCER, SOMATIC |
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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