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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 | rs30168 | Polymorphism | p.ALA4134VAL | N/A | dbSNP | rs35900306 | Polymorphism | p.ARG2425HIS | N/A | Swiss-Prot | VAR_030705 | Disease | p.ARG1716LEU | Ciliary dyskinesia, primary, 3 (CILD3) | Swiss-Prot | VAR_030708 | Disease | p.ARG2501PRO | Ciliary dyskinesia, primary, 3 (CILD3) | dbSNP | rs10078391 | Polymorphism | p.GLN2463ARG | N/A | Swiss-Prot | VAR_053842 | Polymorphism | p.GLN620LYS | N/A | Swiss-Prot | VAR_030707 | Disease | p.GLU2347LYS | Ciliary dyskinesia, primary, 3 (CILD3) | dbSNP | rs76229167 | Polymorphism | p.GLU895LYS | N/A | Swiss-Prot | VAR_019608 | Disease | p.GLY3519ARG | Kartagener syndrome (KTGS) | dbSNP | rs1530496 | Polymorphism | p.GLY24GLU | N/A | Swiss-Prot | VAR_030712 | Disease | p.GLY4205VAL | Ciliary dyskinesia, primary, 3 (CILD3) | dbSNP | rs339445 | Polymorphism | p.HIS12GLN | N/A | dbSNP | rs4701997 | Polymorphism | p.ILE766LEU | N/A | dbSNP | rs3734110 | Polymorphism | p.ILE4450VAL | N/A | dbSNP | rs35090077 | Polymorphism | p.LEU591ARG | N/A | dbSNP | rs10513155 | Polymorphism | p.LEU2862PHE | N/A | Swiss-Prot | VAR_053841 | Polymorphism | p.LEU591VAL | N/A | Swiss-Prot | VAR_053843 | Polymorphism | p.LYS765ASN | N/A | dbSNP | rs16902880 | Polymorphism | p.MET1081VAL | N/A | Swiss-Prot | VAR_030709 | Disease | p.PHE2843SER | Ciliary dyskinesia, primary, 3 (CILD3) | dbSNP | rs113425437 | Polymorphism | p.PRO4488THR | N/A | Swiss-Prot | VAR_030706 | Disease | p.SER2264ASN | Ciliary dyskinesia, primary, 3 (CILD3) | dbSNP | rs16902886 | Polymorphism | p.SER1006GLY | N/A | Swiss-Prot | VAR_030711 | Disease | p.SER3843LEU | Ciliary dyskinesia, primary, 3 (CILD3) | dbSNP | rs2277046 | Polymorphism | p.THR4220ALA | N/A | dbSNP | rs61742104 | Polymorphism | p.THR4518ALA | N/A | dbSNP | rs1530498 | Polymorphism | p.THR558ALA | N/A | dbSNP | rs17263496 | Polymorphism | p.THR3791ILE | N/A | Swiss-Prot | VAR_030710 | Disease | p.TRP3409SER | Ciliary dyskinesia, primary, 3 (CILD3) | dbSNP | rs115075057 | Polymorphism | p.TYR4308CYS | N/A | OMIM | 603335.0004 | Disease | p.GLN610TER | CILIARY DYSKINESIA, PRIMARY, 3 | OMIM | 603335.0009 | Disease | p.GLY1047ARG | CILIARY DYSKINESIA, PRIMARY, 3 | OMIM | 603335.0002 | Disease | p.GLY3519ARG | CILIARY DYSKINESIA, PRIMARY, 3 | OMIM | 603335.0008 | Disease | p.ILE374THR | CILIARY DYSKINESIA, PRIMARY, 3 |
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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