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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_015818 | Disease | p.ALA102GLU | Li-Fraumeni syndrome (LFS) | Swiss-Prot | VAR_001462 | Disease | p.ALA100LEU | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001432 | Disease | p.ALA68LEU | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001463 | Polymorphism | p.ALA100PRO | N/A | Swiss-Prot | VAR_001481 | Polymorphism | p.ALA132PRO | N/A | Swiss-Prot | VAR_001410 | Polymorphism | p.ALA20PRO | N/A | Swiss-Prot | VAR_001480 | Polymorphism | p.ALA127SER | N/A | Swiss-Prot | VAR_001411 | Polymorphism | p.ALA20SER | N/A | Swiss-Prot | VAR_053031 | Polymorphism | p.ALA102THR | N/A | Swiss-Prot | VAR_001472 | Disease | p.ALA118THR | Melanoma, cutaneous malignant 2 (CMM2) | dbSNP | rs3731249 | Polymorphism | p.ALA148THR | N/A | Swiss-Prot | VAR_001428 | Polymorphism | p.ALA60THR | N/A | Swiss-Prot | VAR_001433 | Polymorphism | p.ALA68THR | N/A | Swiss-Prot | VAR_001450 | Polymorphism | p.ALA85THR | N/A | Swiss-Prot | VAR_001482 | Polymorphism | p.ALA134VAL | N/A | Swiss-Prot | VAR_001426 | Polymorphism | p.ALA57VAL | N/A | Swiss-Prot | VAR_053028 | Polymorphism | p.ALA60VAL | N/A | Swiss-Prot | VAR_001434 | Polymorphism | p.ALA68VAL | N/A | Swiss-Prot | VAR_001466 | Disease | p.ARG107CYS | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_053032 | Polymorphism | p.ARG124CYS | N/A | Swiss-Prot | VAR_001484 | Polymorphism | p.ARG144CYS | N/A | Swiss-Prot | VAR_001413 | Disease | p.ARG24CYS | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_058550 | Polymorphism | p.ARG24GLN | N/A | Swiss-Prot | VAR_053027 | Polymorphism | p.ARG58GLN | N/A | Swiss-Prot | VAR_001461 | Polymorphism | p.ARG99GLN | N/A | Swiss-Prot | VAR_001467 | Polymorphism | p.ARG107HIS | N/A | Swiss-Prot | VAR_001478 | Polymorphism | p.ARG124HIS | N/A | Swiss-Prot | VAR_001442 | Polymorphism | p.ARG80LEU | N/A | Swiss-Prot | VAR_001414 | Disease | p.ARG24PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_058557 | Disease | p.ARG80PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001451 | Disease | p.ARG87PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001460 | Disease | p.ARG99PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_012317 | Disease | p.ARG87TRP | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_053030 | Polymorphism | p.ARG99TRP | N/A | Swiss-Prot | VAR_001437 | Disease | p.ASN71LYS | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001438 | Polymorphism | p.ASN71SER | N/A | Swiss-Prot | VAR_001440 | Polymorphism | p.ASP74ASN | N/A | Swiss-Prot | VAR_001448 | Polymorphism | p.ASP84ASN | N/A | Swiss-Prot | VAR_001408 | Polymorphism | p.ASP14GLU | N/A | Swiss-Prot | VAR_001446 | Polymorphism | p.ASP84GLU | N/A | Swiss-Prot | VAR_001469 | Polymorphism | p.ASP108HIS | N/A | Swiss-Prot | VAR_001447 | Polymorphism | p.ASP84HIS | N/A | Swiss-Prot | VAR_001468 | Polymorphism | p.ASP108TYR | N/A | Swiss-Prot | VAR_058555 | Disease | p.ASP74TYR | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001449 | Disease | p.ASP84TYR | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001441 | Polymorphism | p.ASP74VAL | N/A | Swiss-Prot | VAR_001439 | Polymorphism | p.CYS72GLY | N/A | Swiss-Prot | VAR_001423 | Disease | p.GLN50ARG | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001474 | Polymorphism | p.GLU120ALA | N/A | Swiss-Prot | VAR_001415 | Polymorphism | p.GLU26ASP | N/A | Swiss-Prot | VAR_001417 | Polymorphism | p.GLU33ASP | N/A | Swiss-Prot | VAR_001452 | Polymorphism | p.GLU88ASP | N/A | Swiss-Prot | VAR_001473 | Polymorphism | p.GLU119GLN | N/A | Swiss-Prot | VAR_058554 | Polymorphism | p.GLU69GLY | N/A | Swiss-Prot | VAR_001475 | Polymorphism | p.GLU120LYS | N/A | Swiss-Prot | VAR_001435 | Polymorphism | p.GLU69LYS | N/A | Swiss-Prot | VAR_001436 | Polymorphism | p.GLU69VAL | N/A | Swiss-Prot | VAR_001418 | Disease | p.GLY35ALA | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_035069 | Disease | p.GLY122ARG | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_058553 | Disease | p.GLY67ARG | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001412 | Polymorphism | p.GLY23ASP | N/A | Swiss-Prot | VAR_001453 | Disease | p.GLY89ASP | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001419 | Disease | p.GLY35GLU | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001476 | Polymorphism | p.GLY122SER | N/A | Swiss-Prot | VAR_001454 | Disease | p.GLY89SER | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001464 | Disease | p.GLY101TRP | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001487 | Polymorphism | p.GLY150VAL | N/A | Swiss-Prot | VAR_058551 | Disease | p.GLY35VAL | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001445 | Polymorphism | p.HIS83ASN | N/A | Swiss-Prot | VAR_001477 | Polymorphism | p.HIS123GLN | N/A | Swiss-Prot | VAR_053029 | Polymorphism | p.HIS83GLN | N/A | Swiss-Prot | VAR_001459 | Disease | p.HIS98GLN | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001458 | Disease | p.HIS98PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001483 | Polymorphism | p.HIS142TYR | N/A | Swiss-Prot | VAR_001431 | Polymorphism | p.HIS66TYR | N/A | Swiss-Prot | VAR_001444 | Polymorphism | p.HIS83TYR | N/A | Swiss-Prot | VAR_001421 | Polymorphism | p.ILE49SER | N/A | Swiss-Prot | VAR_001422 | Polymorphism | p.ILE49THR | N/A | Swiss-Prot | VAR_001457 | Disease | p.LEU97ARG | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_023604 | Disease | p.LEU94GLN | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001471 | Disease | p.LEU117MET | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001409 | Polymorphism | p.LEU16PRO | N/A | Swiss-Prot | VAR_001416 | Disease | p.LEU32PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001430 | Disease | p.LEU62PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001424 | Disease | p.MET53ILE | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001470 | Polymorphism | p.PRO114LEU | N/A | Swiss-Prot | VAR_001420 | Disease | p.PRO48LEU | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001443 | Polymorphism | p.PRO81LEU | N/A | Swiss-Prot | VAR_058559 | Polymorphism | p.PRO114SER | N/A | Swiss-Prot | VAR_058558 | Disease | p.PRO81THR | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001425 | Polymorphism | p.SER56ILE | N/A | Swiss-Prot | VAR_001455 | Polymorphism | p.THR93ALA | N/A | Swiss-Prot | VAR_058556 | Disease | p.THR77PRO | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001456 | Polymorphism | p.VAL95ALA | N/A | Swiss-Prot | VAR_001479 | Disease | p.VAL126ASP | Melanoma, cutaneous malignant 2 (CMM2) | Swiss-Prot | VAR_001427 | Disease | p.VAL59GLY | Melanoma, cutaneous malignant 2 (CMM2) | OMIM | 600160.0021 | Disease | p.ARG54HIS | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0008 | Disease | p.ARG24PRO | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0002 | Disease | p.ARG166TER | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0015 | Disease | p.GLY122ARG | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0019 | Disease | p.GLY89ASP | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0001 | Disease | p.GLY193SER | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0005 | Disease | p.GLY101TRP | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2||MELANOMA-PANCREATIC CANCER SYNDROME, INCLUDED | OMIM | 600160.0017 | Disease | p.LEU113LEU | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0007 | Disease | p.MET53ILE | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0017 | Disease | p.PRO114SER | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0018 | Disease | p.SER56ILE | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0013 | Disease | p.VAL126ASP | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | OMIM | 600160.0016 | Disease | p.VAL59GLY | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 |
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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