|
|
|
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_014767 | Polymorphism | p.GLY402CYS | N/A | Swiss-Prot | VAR_014766 | Polymorphism | p.LYS117ARG | N/A | Swiss-Prot | VAR_035942 | Polymorphism | p.LYS418GLN | N/A | Swiss-Prot | VAR_003632 | Disease | p.PHE99SER | Xeroderma pigmentosum complementation group B (XP-B) | Swiss-Prot | VAR_017294 | Polymorphism | p.SER704LEU | N/A | Swiss-Prot | VAR_014344 | Polymorphism | p.SER735PRO | N/A | Swiss-Prot | VAR_008186 | Disease | p.THR119PRO | Trichothiodystrophy photosensitive (TTDP) | OMIM | 133510.0004 | Disease | p.ARG425TER | XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME | OMIM | 133510.0007 | Disease | p.GLN545TER | XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME | OMIM | 133510.0002 | Disease | p.PHE99SER | XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME | OMIM | 133510.0003 | Disease | p.THR119PRO | TRICHOTHIODYSTROPHY |
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
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|