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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_067812 | Disease | p.ARG196CYS | Baraitser-Winter syndrome 1 (BRWS1) | Swiss-Prot | VAR_067813 | Disease | p.ARG196HIS | Baraitser-Winter syndrome 1 (BRWS1) | Swiss-Prot | VAR_030026 | Disease | p.ARG183TRP | Dystonia, juvenile-onset (DYTJ) | Swiss-Prot | VAR_067810 | Disease | p.ASN12ASP | Baraitser-Winter syndrome 1 (BRWS1) | Swiss-Prot | VAR_067811 | Disease | p.LEU65VAL | Baraitser-Winter syndrome 1 (BRWS1) | Swiss-Prot | VAR_048185 | Polymorphism | p.PRO243LEU | N/A | OMIM | 102630.0003 | Disease | p.ARG196CYS | BARAITSER-WINTER SYNDROME 1 | OMIM | 102630.0002 | Disease | p.ARG196HIS | BARAITSER-WINTER SYNDROME 1 | OMIM | 102630.0001 | Disease | p.ARG183TRP | DYSTONIA, JUVENILE-ONSET | OMIM | 102630.0005 | Disease | p.ASN12ASP | BARAITSER-WINTER SYNDROME 1 | OMIM | 102630.0006 | Disease | p.GLU117LYS | BARAITSER-WINTER SYNDROME 1, ATYPICAL | OMIM | 102630.0004 | Disease | p.LEU65VAL | BARAITSER-WINTER SYNDROME 1 |
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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