|
|
|
|
| | 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_063880 | Disease | p.ARG260CYS | Lymphedema, hereditary, 1C (LMPH1C) | Swiss-Prot | VAR_063878 | Polymorphism | p.ARG125GLN | N/A | Swiss-Prot | VAR_063879 | Polymorphism | p.GLY149SER | N/A | Swiss-Prot | VAR_063876 | Polymorphism | p.HIS19PRO | N/A | Swiss-Prot | VAR_063172 | Disease | p.ILE36MET | Spastic paraplegia 44, autosomal recessive (SPG44) | Swiss-Prot | VAR_023756 | Disease | p.MET286THR | Leukodystrophy, hypomyelinating, 2 (HLD2) | Swiss-Prot | VAR_063881 | Polymorphism | p.PRO316LEU | N/A | Swiss-Prot | VAR_023754 | Disease | p.PRO90SER | Leukodystrophy, hypomyelinating, 2 (HLD2) | Swiss-Prot | VAR_063877 | Disease | p.SER48LEU | Lymphedema, hereditary, 1C (LMPH1C) | Swiss-Prot | VAR_023755 | Disease | p.TYR272ASP | Leukodystrophy, hypomyelinating, 2 (HLD2) | OMIM | 608803.0010 | Disease | p.ARG260CYS | LYMPHEDEMA, HEREDITARY, IC | OMIM | 608803.0004 | Disease | p.ARG240TER | LEUKODYSTROPHY, HYPOMYELINATING, 2 | OMIM | 608803.0012 | Disease | p.GLU263LYS | LEUKODYSTROPHY, HYPOMYELINATING, 2 | OMIM | 608803.0008 | Disease | p.ILE33MET | SPASTIC PARAPLEGIA 44 | OMIM | 608803.0001 | Disease | p.MET286THR | LEUKODYSTROPHY, HYPOMYELINATING, 2 | OMIM | 608803.0002 | Disease | p.PRO90SER | LEUKODYSTROPHY, HYPOMYELINATING, 2 | OMIM | 608803.0009 | Disease | p.SER48LEU | LYMPHEDEMA, HEREDITARY, IC | OMIM | 608803.0005 | Disease | p.TYR272ASP | LEUKODYSTROPHY, HYPOMYELINATING, 2 |
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 |
|