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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_001349 | Polymorphism | p.ALA970ASP | N/A | Swiss-Prot | VAR_001351 | Polymorphism | p.ALA2025GLY | N/A | dbSNP | rs77877855 | Polymorphism | p.ALA1998PRO | N/A | Swiss-Prot | VAR_038508 | Polymorphism | p.ALA766THR | N/A | dbSNP | rs34706737 | Polymorphism | p.ALA957VAL | N/A | dbSNP | rs78394850 | Polymorphism | p.ARG2016CYS | N/A | Swiss-Prot | VAR_001328 | Disease | p.ARG28CYS | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001325 | Disease | p.ARG28HIS | Elliptocytosis 2 (EL2) | dbSNP | rs12090314 | Polymorphism | p.ARG701HIS | N/A | Swiss-Prot | VAR_038511 | Polymorphism | p.ARG1330ILE | N/A | Swiss-Prot | VAR_001326 | Disease | p.ARG28LEU | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001327 | Disease | p.ARG28SER | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001332 | Disease | p.ARG45SER | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001333 | Disease | p.ARG45THR | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001330 | Disease | p.ARG34TRP | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001331 | Disease | p.ARG41TRP | Elliptocytosis 2 (EL2) | dbSNP | rs16830483 | Polymorphism | p.ASN1836SER | N/A | dbSNP | rs16840544 | Polymorphism | p.ASP152ASN | N/A | dbSNP | rs7418956 | Polymorphism | p.ASP791GLU | N/A | Swiss-Prot | VAR_001346 | Disease | p.ASP791GLU | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_038512 | Polymorphism | p.CYS1568ARG | N/A | Swiss-Prot | VAR_001344 | Disease | p.GLN471PRO | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001337 | Disease | p.GLY151ASP | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001334 | Disease | p.GLY46VAL | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001342 | Disease | p.HIS469PRO | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001324 | Disease | p.ILE24SER | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_059201 | Polymorphism | p.ILE2265THR | N/A | dbSNP | rs7547313 | Polymorphism | p.ILE809VAL | N/A | Swiss-Prot | VAR_001336 | Disease | p.LEU49PHE | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001339 | Disease | p.LEU207PRO | Hereditary pyropoikilocytosis (HPP) | Swiss-Prot | VAR_001340 | Disease | p.LEU260PRO | Elliptocytosis 2 (EL2) | Swiss-Prot | VAR_001350 | Polymorphism | p.LEU1858VAL | N/A | Swiss-Prot | VAR_001335 | Disease | p.LYS48ARG | Hereditary pyropoikilocytosis (HPP) | dbSNP | rs857725 | Polymorphism | p.LYS1693GLN | N/A | Swiss-Prot | VAR_038510 | Polymorphism | p.SER1163ALA | N/A | Swiss-Prot | VAR_038506 | Polymorphism | p.SER109PHE | N/A | Swiss-Prot | VAR_001341 | Disease | p.SER261PRO | Elliptocytosis 2 (EL2) | dbSNP | rs35121052 | Polymorphism | p.THR853ARG | N/A | Swiss-Prot | VAR_001329 | Disease | p.VAL31ALA | Elliptocytosis 2 (EL2) | OMIM | 182860.0009 | Disease | p.ALA970ASP | SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | OMIM | 182860.0013 | Disease | p.ARG28CYS | ELLIPTOCYTOSIS 2||PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED | OMIM | 182860.0014 | Disease | p.ARG28HIS | ELLIPTOCYTOSIS 2||PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED | OMIM | 182860.0011 | Disease | p.ARG28LEU | ELLIPTOCYTOSIS 2 | OMIM | 182860.0012 | Disease | p.ARG28SER | ELLIPTOCYTOSIS 2||PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED | OMIM | 182860.0005 | Disease | p.ARG45SER | PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 2, INCLUDED | OMIM | 182860.0010 | Disease | p.ARG41TRP | ELLIPTOCYTOSIS 2 | OMIM | 182860.0018 | Disease | p.ASP791GLU | ELLIPTOCYTOSIS 2 | OMIM | 182860.0002 | Disease | p.GLN471PRO | ELLIPTOCYTOSIS 2 | OMIM | 182860.0006 | Disease | p.GLY46VAL | ELLIPTOCYTOSIS 2 | OMIM | 182860.0007 | Disease | p.LEU48PHE | ELLIPTOCYTOSIS 2 | OMIM | 182860.0016 | Disease | p.LEU207PRO | PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 2, INCLUDED | OMIM | 182860.0001 | Disease | p.LEU260PRO | ELLIPTOCYTOSIS 2 | OMIM | 182860.0017 | Disease | p.LYS48ARG | PYROPOIKILOCYTOSIS, HEREDITARY | OMIM | 182860.0004 | Disease | p.SER261PRO | ELLIPTOCYTOSIS 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.
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