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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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dbSNP | rs62621997 | Polymorphism | p.ALA1286GLY | N/A | dbSNP | rs1131356 | Polymorphism | p.ASP1157ASN | N/A | dbSNP | rs17058845 | Polymorphism | p.GLU1179LYS | N/A | dbSNP | rs12632456 | Polymorphism | p.VAL1502MET | N/A | OMIM | 603381.0006 | Disease | p.ALA173VAL | ATELOSTEOGENESIS, TYPE I | OMIM | 603381.0003 | Disease | p.ARG1607TER | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | OMIM | 603381.0013 | Disease | p.ARG2004TER | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | OMIM | 603381.0002 | Disease | p.ARG818TER | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | OMIM | 603381.0011 | Disease | p.GLU227LYS | LARSEN SYNDROME | OMIM | 603381.0005 | Disease | p.GLY1586ARG | LARSEN SYNDROME | OMIM | 603381.0008 | Disease | p.GLY751ARG | ATELOSTEOGENESIS, TYPE III | OMIM | 603381.0012 | Disease | p.GLY1691SER | LARSEN SYNDROME | OMIM | 603381.0014 | Disease | p.GLY1850TER | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | OMIM | 603381.0007 | Disease | p.MET202VAL | ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III, INCLUDED | OMIM | 603381.0004 | Disease | p.PHE161CYS | LARSEN SYNDROME | OMIM | 603381.0010 | Disease | p.SER235PRO | BOOMERANG DYSPLASIA | OMIM | 603381.0001 | Disease | p.SER2137TER | SPONDYLOCARPOTARSAL SYNOSTOSIS 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.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
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