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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 | rs35504556 | Polymorphism | p.ALA1419GLY | N/A | dbSNP | rs17091204 | Polymorphism | p.SER1012LEU | N/A | OMIM | 300017.0019 | Disease | p.ALA39GLY | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | OMIM | 300017.0012 | Disease | p.ALA1188THR | MELNICK-NEEDLES SYNDROME | OMIM | 300017.0021 | Disease | p.ALA128VAL | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | OMIM | 300017.0026 | Disease | p.ARG196TRP | OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED | OMIM | 300017.0011 | Disease | p.ASP1159ALA | FRONTOMETAPHYSEAL DYSPLASIA | OMIM | 300017.0020 | Disease | p.ASP203TYR | OTOPALATODIGITAL SYNDROME, TYPE I | OMIM | 300017.0027 | Disease | p.CYS210PHE | OTOPALATODIGITAL SYNDROME, TYPE II | OMIM | 300017.0001 | Disease | p.GLN182TER | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT | OMIM | 300017.0010 | Disease | p.GLU254LYS | OTOPALATODIGITAL SYNDROME, TYPE II | OMIM | 300017.0008 | Disease | p.GLU82VAL | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT | OMIM | 300017.0031 | Disease | p.GLY288ARG | CARDIAC VALVULAR DYSPLASIA, X-LINKED | OMIM | 300017.0022 | Disease | p.GLY1720CYS | OTOPALATODIGITAL SPECTRUM DISORDER | OMIM | 300017.0006 | Disease | p.LEU656PHE | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT | OMIM | 300017.0030 | Disease | p.PRO637GLN | CARDIAC VALVULAR DYSPLASIA, X-LINKED | OMIM | 300017.0028 | Disease | p.PRO1291LEU | FG SYNDROME 2 | OMIM | 300017.0009 | Disease | p.PRO207LEU | OTOPALATODIGITAL SYNDROME, TYPE I | OMIM | 300017.0015 | Disease | p.SER1186LEU | FRONTOMETAPHYSEAL DYSPLASIA | OMIM | 300017.0013 | Disease | p.SER1199LEU | MELNICK-NEEDLES SYNDROME | OMIM | 300017.0034 | Disease | p.TRP2624TER | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT | OMIM | 300017.0032 | Disease | p.VAL711ASP | CARDIAC VALVULAR DYSPLASIA, X-LINKED |
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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