|
|
|
|
| | 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 ↕ |
---|
dbSNP | rs41298293 | Polymorphism | p.ARG42LEU | N/A | dbSNP | rs8177238 | Polymorphism | p.ASP296GLY | N/A | dbSNP | rs1799899 | Polymorphism | p.GLY277SER | N/A | dbSNP | rs2692696 | Polymorphism | p.ILE448VAL | N/A | dbSNP | rs1049296 | Polymorphism | p.PRO589SER | N/A | OMIM | 190000.0007 | Disease | p.ALA477PRO | ATRANSFERRINEMIA | OMIM | 190000.0010 | Disease | p.ASP77ASN | ATRANSFERRINEMIA | OMIM | 190000.0009 | Disease | p.GLU375LYS | ATRANSFERRINEMIA | OMIM | 190000.0001 | Disease | p.GLY277ASP | TRANSFERRIN VARIANT D1 | OMIM | 190000.0003 | Disease | p.GLY652GLU | TRANSFERRIN VARIANT B2 | OMIM | 190000.0008 | Disease | p.GLY277SER | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 190000.0002 | Disease | p.HIS300ARG | TRANSFERRIN VARIANT CHI | OMIM | 190000.0005 | Disease | p.LYS627GLU | TRANSFERRIN VARIANT Bv | OMIM | 190000.0004 | Disease | p.PRO570SER | TRANSFERRIN VARIANT C1/C2||ALZHEIMER DISEASE, SUSCEPTIBILITY TO, INCLUDED |
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 |
|