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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_001357 | Disease | p.ALA2018GLY | Elliptocytosis 3 (EL3) | Swiss-Prot | VAR_001362 | Disease | p.ALA2053PRO | Elliptocytosis 3 (EL3) | Swiss-Prot | VAR_001359 | Disease | p.ALA2023VAL | Elliptocytosis 3 (EL3) | dbSNP | rs17180350 | Polymorphism | p.ARG1403GLN | N/A | dbSNP | rs77806 | Polymorphism | p.ASN1151ASP | N/A | Swiss-Prot | VAR_061084 | Polymorphism | p.GLU525LYS | N/A | dbSNP | rs17245552 | Polymorphism | p.GLY1408ARG | N/A | Swiss-Prot | VAR_001355 | Polymorphism | p.HIS1374ARG | N/A | Swiss-Prot | VAR_001361 | Disease | p.LEU2025ARG | Elliptocytosis 3 (EL3) | dbSNP | rs229587 | Polymorphism | p.SER439ASN | N/A | Swiss-Prot | VAR_038514 | Polymorphism | p.SER613ILE | N/A | Swiss-Prot | VAR_001358 | Disease | p.SER2019PRO | Elliptocytosis 3 (EL3) | Swiss-Prot | VAR_001352 | Polymorphism | p.TRP202ARG | N/A | Swiss-Prot | VAR_001360 | Disease | p.TRP2024ARG | Elliptocytosis 3 (EL3) | 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 |
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