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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_001224 | Polymorphism | p.ARG1213GLY | N/A | Swiss-Prot | VAR_036022 | Polymorphism | p.ARG652LEU | N/A | Swiss-Prot | VAR_016305 | Polymorphism | p.ARG1230PRO | N/A | Swiss-Prot | VAR_036023 | Polymorphism | p.ARG1038THR | N/A | Swiss-Prot | VAR_054153 | Polymorphism | p.ARG134TRP | N/A | Swiss-Prot | VAR_001218 | Disease | p.ARG670TRP | Cockayne syndrome B (CSB) | Swiss-Prot | VAR_063511 | Disease | p.ASN680ASP | Cockayne syndrome B (CSB) | Swiss-Prot | VAR_016301 | Polymorphism | p.ASP425ALA | N/A | Swiss-Prot | VAR_037437 | Polymorphism | p.ASP1355GLU | N/A | Swiss-Prot | VAR_001225 | Polymorphism | p.GLN1413ARG | N/A | Swiss-Prot | VAR_036024 | Polymorphism | p.GLU1119GLN | N/A | Swiss-Prot | VAR_036025 | Polymorphism | p.GLU1119VAL | N/A | Swiss-Prot | VAR_016308 | Polymorphism | p.GLY1372ARG | N/A | Swiss-Prot | VAR_016309 | Polymorphism | p.GLY1382ARG | N/A | Swiss-Prot | VAR_016310 | Polymorphism | p.GLY1410ARG | N/A | Swiss-Prot | VAR_001217 | Polymorphism | p.GLY399ASP | N/A | Swiss-Prot | VAR_016302 | Polymorphism | p.GLY446ASP | N/A | Swiss-Prot | VAR_016307 | Polymorphism | p.GLY1322VAL | N/A | Swiss-Prot | VAR_063514 | Disease | p.LEU871PRO | Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) | Swiss-Prot | VAR_063515 | Disease | p.LEU987PRO | Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) | Swiss-Prot | VAR_001216 | Polymorphism | p.LYS255THR | N/A | Swiss-Prot | VAR_001223 | Polymorphism | p.MET1097VAL | N/A | Swiss-Prot | VAR_036021 | Polymorphism | p.PRO591ALA | N/A | Swiss-Prot | VAR_001222 | Polymorphism | p.PRO1095ARG | N/A | Swiss-Prot | VAR_001221 | Disease | p.PRO1042LEU | Cockayne syndrome B (CSB) | Swiss-Prot | VAR_063513 | Disease | p.SER687LEU | Cockayne syndrome B (CSB) | Swiss-Prot | VAR_037436 | Polymorphism | p.THR1220ILE | N/A | Swiss-Prot | VAR_016311 | Polymorphism | p.THR1441ILE | N/A | Swiss-Prot | VAR_016303 | Polymorphism | p.THR942MET | N/A | Swiss-Prot | VAR_001219 | Disease | p.TRP851ARG | Cockayne syndrome B (CSB) | Swiss-Prot | VAR_063512 | Disease | p.TRP686CYS | Cockayne syndrome B (CSB) | Swiss-Prot | VAR_016304 | Polymorphism | p.TYR1002CYS | N/A | Swiss-Prot | VAR_001220 | Disease | p.VAL957GLY | Cockayne syndrome B (CSB) | Swiss-Prot | VAR_016306 | Polymorphism | p.VAL1308LEU | N/A | dbSNP | rs2228527 | Polymorphism | p.ARG1213GLY | N/A | dbSNP | rs4253211 | Polymorphism | p.ARG1230PRO | N/A | dbSNP | rs2228529 | Polymorphism | p.GLN1413ARG | N/A | dbSNP | rs2228528 | Polymorphism | p.GLY399ASP | N/A | dbSNP | rs4253219 | Polymorphism | p.GLY1322VAL | N/A | dbSNP | rs2228526 | Polymorphism | p.MET1097VAL | N/A | dbSNP | rs4253230 | Polymorphism | p.THR1441ILE | N/A | dbSNP | rs2228525 | Polymorphism | p.THR942MET | N/A | OMIM | 609413.0015 | Disease | p.ARG1288TER | CEREBROOCULOFACIOSKELETAL SYNDROME 1 | OMIM | 609413.0004 | Disease | p.ARG453TER | COCKAYNE SYNDROME B | OMIM | 609413.0012 | Disease | p.ARG683TER | CEREBROOCULOFACIOSKELETAL SYNDROME 1 | OMIM | 609413.0002 | Disease | p.ARG735TER | COCKAYNE SYNDROME B||DE SANCTIS-CACCHIONE SYNDROME, INCLUDED | OMIM | 609413.0009 | Disease | p.ARG77TER | UV-SENSITIVE SYNDROME 1 | OMIM | 609413.0013 | Disease | p.LEU987PRO | CEREBROOCULOFACIOSKELETAL SYNDROME 1 | OMIM | 609413.0008 | Disease | p.PRO1095ARG | COCKAYNE SYNDROME B | OMIM | 609413.0001 | Disease | p.TRP517TER | COCKAYNE SYNDROME B |
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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