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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_057904 | Polymorphism | p.ALA114ASP | N/A | Swiss-Prot | VAR_057908 | Polymorphism | p.ASN951SER | N/A | Swiss-Prot | VAR_057905 | Polymorphism | p.ASP192ASN | N/A | Swiss-Prot | VAR_057906 | Polymorphism | p.ASP229ASN | N/A | Swiss-Prot | VAR_001808 | Disease | p.CYS1639SER | Ehlers-Danlos syndrome 1 (EDS1) | Swiss-Prot | VAR_015413 | Disease | p.GLY1489ASP | Ehlers-Danlos syndrome 1 (EDS1) | Swiss-Prot | VAR_057909 | Disease | p.GLY1486CYS | Ehlers-Danlos syndrome 2 (EDS2) | Swiss-Prot | VAR_015412 | Disease | p.GLY530SER | Ehlers-Danlos syndrome 2 (EDS2) | Swiss-Prot | VAR_057903 | Disease | p.LEU25ARG | Ehlers-Danlos syndrome 2 (EDS2) | Swiss-Prot | VAR_057902 | Disease | p.LEU25PRO | Ehlers-Danlos syndrome 2 (EDS2) | Swiss-Prot | VAR_064702 | Polymorphism | p.PRO908LEU | N/A | Swiss-Prot | VAR_057907 | Polymorphism | p.PRO393SER | N/A | dbSNP | rs2229817 | Polymorphism | p.THR1757MET | N/A | OMIM | 120215.0012 | Disease | p.ARG1062TER | EHLERS-DANLOS SYNDROME, TYPE I | OMIM | 120215.0009 | Disease | p.ARG792TER | EHLERS-DANLOS SYNDROME, TYPE I | OMIM | 120215.0003 | Disease | p.CYS1181SER | EHLERS-DANLOS SYNDROME, TYPE I | OMIM | 120215.0007 | Disease | p.GLY1489GLU | EHLERS-DANLOS SYNDROME, TYPE I |
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.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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