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Known Diseases associated with this Protein: | DOMINANTLY INHERITED VENOUS MALFORMATIONS (VMCM)
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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_066610 | Disease | p.ALA925SER | Dominantly inherited venous malformations (VMCM) | Swiss-Prot | VAR_041860 | Polymorphism | p.ALA724THR | N/A | Swiss-Prot | VAR_041862 | Polymorphism | p.ALA1124VAL | N/A | Swiss-Prot | VAR_041856 | Polymorphism | p.ALA226VAL | N/A | Swiss-Prot | VAR_066608 | Disease | p.ARG918CYS | Dominantly inherited venous malformations (VMCM) | Swiss-Prot | VAR_066607 | Disease | p.ARG915HIS | Dominantly inherited venous malformations (VMCM) | Swiss-Prot | VAR_006352 | Disease | p.ARG849TRP | Dominantly inherited venous malformations (VMCM) | Swiss-Prot | VAR_048002 | Polymorphism | p.GLN346PRO | N/A | Swiss-Prot | VAR_041855 | Polymorphism | p.ILE148THR | N/A | Swiss-Prot | VAR_041858 | Polymorphism | p.LEU634PHE | N/A | Swiss-Prot | VAR_066611 | Disease | p.LYS1100ASN | Dominantly inherited venous malformations (VMCM) | Swiss-Prot | VAR_035714 | Polymorphism | p.LYS117ASN | N/A | Swiss-Prot | VAR_041861 | Polymorphism | p.PRO883ALA | N/A | Swiss-Prot | VAR_048003 | Polymorphism | p.THR391ILE | N/A | Swiss-Prot | VAR_066606 | Disease | p.TYR897CYS | Dominantly inherited venous malformations (VMCM) | Swiss-Prot | VAR_008716 | Disease | p.TYR897SER | Dominantly inherited venous malformations (VMCM) | Swiss-Prot | VAR_024578 | Polymorphism | p.VAL486ILE | N/A | Swiss-Prot | VAR_041859 | Polymorphism | p.VAL676ILE | N/A | Swiss-Prot | VAR_041857 | Polymorphism | p.VAL600LEU | N/A | Swiss-Prot | VAR_066609 | Disease | p.VAL919LEU | Dominantly inherited venous malformations (VMCM) |
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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