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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_035743 | Polymorphism | p.ALA1326VAL | N/A | dbSNP | rs11164663 | Polymorphism | p.ASP46GLU | N/A | Swiss-Prot | VAR_035745 | Polymorphism | p.GLN1328LEU | N/A | Swiss-Prot | VAR_035744 | Polymorphism | p.GLN1328LYS | N/A | Swiss-Prot | VAR_063676 | Disease | p.GLY1027ARG | Stickler syndrome 2 (STL2) | Swiss-Prot | VAR_065905 | Disease | p.GLY1042ARG | Fibrochondrogenesis 1 (FBCG1) | Swiss-Prot | VAR_013584 | Disease | p.GLY676ARG | Stickler syndrome 2 (STL2) | Swiss-Prot | VAR_065904 | Disease | p.GLY796ARG | Fibrochondrogenesis 1 (FBCG1) | Swiss-Prot | VAR_063678 | Disease | p.GLY1513ASP | Stickler syndrome 2 (STL2) | Swiss-Prot | VAR_047725 | Polymorphism | p.GLY559SER | N/A | Swiss-Prot | VAR_013587 | Disease | p.GLY1516VAL | Stickler syndrome 2 (STL2) | Swiss-Prot | VAR_063675 | Disease | p.GLY565VAL | Stickler syndrome 2 (STL2) | Swiss-Prot | VAR_013583 | Disease | p.GLY625VAL | Stickler syndrome 2 (STL2) | Swiss-Prot | VAR_047728 | Polymorphism | p.LEU1805PHE | N/A | dbSNP | rs3753841 | Polymorphism | p.PRO1323LEU | N/A | dbSNP | rs1676486 | Polymorphism | p.SER1535PRO | N/A | Swiss-Prot | VAR_047723 | Polymorphism | p.TRP8GLY | N/A | OMIM | 120280.0009 | Disease | p.GLY1030ARG | FIBROCHONDROGENESIS | OMIM | 120280.0010 | Disease | p.GLY784ARG | FIBROCHONDROGENESIS | OMIM | 120280.0011 | Disease | p.GLY1303TER | FIBROCHONDROGENESIS | OMIM | 120280.0001 | Disease | p.GLY97VAL | STICKLER SYNDROME, TYPE II | OMIM | 120280.0003 | Disease | p.GLY976VAL | MARSHALL/STICKLER SYNDROME |
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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