|
|
|---|
 |
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs17180350 | Polymorphism | p.ARG1403GLN | N/A | | dbSNP | rs77806 | Polymorphism | p.ASN1151ASP | N/A | | dbSNP | rs17245552 | Polymorphism | p.GLY1408ARG | N/A | | dbSNP | rs10132778 | Polymorphism | p.HIS1374ARG | N/A | | dbSNP | rs229587 | Polymorphism | p.SER439ASN | N/A | | OMIM | 182870.0008 | Disease | p.ALA2018GLY | PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 3, INCLUDED | | OMIM | 182870.0003 | Disease | p.ALA2053PRO | ELLIPTOCYTOSIS 3 | | OMIM | 182870.0012 | Disease | p.ARG2064PRO | ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA | | OMIM | 182870.0015 | Disease | p.ARG1756TER | SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT | | OMIM | 182870.0011 | Disease | p.LEU2025ARG | ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL | | OMIM | 182870.0009 | Disease | p.SER2019PRO | SPECTRIN PROVIDENCE | | OMIM | 182870.0007 | Disease | p.TRP202ARG | SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE |
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 |
|
67782321
spectrin beta chain, erythrocytic isoform a [Homo sapiens]
7
5
7
5
0
