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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_006847 | Polymorphism | p.GLN61ARG | N/A | Swiss-Prot | VAR_006846 | Polymorphism | p.GLN61LYS | N/A | Swiss-Prot | VAR_006845 | Polymorphism | p.GLY13ARG | N/A | Swiss-Prot | VAR_063084 | Disease | p.GLY13ASP | Autoimmune lymphoproliferative syndrome 4 (ALPS4) | Swiss-Prot | VAR_021194 | Polymorphism | p.GLY12CYS | N/A | Swiss-Prot | VAR_063086 | Disease | p.GLY60GLU | Noonan syndrome 6 (NS6) | Swiss-Prot | VAR_063085 | Disease | p.THR50ILE | Noonan syndrome 6 (NS6) | OMIM | 164790.0002 | Disease | p.GLN61ARG | THYROID CARCINOMA, FOLLICULAR, SOMATIC||EPIDERMAL NEVUS, SOMATIC, INCLUDED | OMIM | 164790.0001 | Disease | p.GLY13ARG | RECTAL CANCER, SOMATIC | OMIM | 164790.0007 | Disease | p.GLY12ASP | EPIDERMAL NEVUS, SOMATIC | OMIM | 164790.0003 | Disease | p.GLY13ASP | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV||JUVENILE MYELOMONOCYTIC LEUKEMIA, INCLUDED;;||NOONAN SYNDROME 6, INCLU | OMIM | 164790.0005 | Disease | p.GLY60GLU | NOONAN SYNDROME 6 | OMIM | 164790.0006 | Disease | p.PRO34LEU | EPIDERMAL NEVUS, SOMATIC | OMIM | 164790.0004 | Disease | p.THR50ILE | NOONAN SYNDROME 6 |
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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