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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_063935 | Polymorphism | p.ALA370GLY | N/A | Swiss-Prot | VAR_063936 | Disease | p.ARG417GLN | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063927 | Disease | p.CYS181ARG | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063929 | Disease | p.CYS204ARG | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063930 | Disease | p.CYS204TYR | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063922 | Disease | p.GLU40GLN | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063940 | Disease | p.GLY525ARG | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063921 | Disease | p.GLY36ASP | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063938 | Disease | p.GLY488ASP | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063923 | Disease | p.HIS69TYR | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063925 | Disease | p.ILE114THR | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063932 | Disease | p.ILE256VAL | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063928 | Polymorphism | p.LYS203ASN | N/A | Swiss-Prot | VAR_036413 | Polymorphism | p.LYS436THR | N/A | Swiss-Prot | VAR_063931 | Disease | p.MET223LYS | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063924 | Disease | p.MET105THR | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_038947 | Disease | p.MET105VAL | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_038948 | Disease | p.MET157VAL | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063934 | Disease | p.MET342VAL | Vitreoretinopathy, exudative 1 (EVR1) | dbSNP | rs61735303 | Polymorphism | p.PRO168SER | N/A | Swiss-Prot | VAR_063920 | Disease | p.PRO33SER | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063939 | Disease | p.SER497PHE | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063937 | Disease | p.THR445PRO | Vitreoretinopathy, exudative 1 (EVR1) | Swiss-Prot | VAR_063933 | Disease | p.TRP335CYS | Vitreoretinopathy, exudative 1 (EVR1) | OMIM | 604579.0003 | Disease | p.ARG417GLN | EXUDATIVE VITREORETINOPATHY 1||EXUDATIVE VITREORETINOPATHY, DIGENIC, INCLUDED | OMIM | 604579.0006 | Disease | p.ILE256VAL | RETINOPATHY OF PREMATURITY | OMIM | 604579.0004 | Disease | p.MET342VAL | EXUDATIVE VITREORETINOPATHY 1 | OMIM | 604579.0005 | Disease | p.TRP335CYS | EXUDATIVE VITREORETINOPATHY 1 |
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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