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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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dbSNP | rs2229857 | Polymorphism | p.LYS384ARG | N/A | OMIM | 146920.0009 | Disease | p.ALA825THR | AICARDI-GOUTIERES SYNDROME 6 | OMIM | 146920.0008 | Disease | p.ARG847HIS | AICARDI-GOUTIERES SYNDROME 6 | OMIM | 146920.0001 | Disease | p.ARG474TER | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | OMIM | 146920.0010 | Disease | p.ASP1068HIS | AICARDI-GOUTIERES SYNDROME 6 | OMIM | 146920.0005 | Disease | p.GLN693TER | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | OMIM | 146920.0011 | Disease | p.GLY962ARG | DYSCHROMATOSIS SYMMETRICA HEREDITARIA||AICARDI-GOUTIERES SYNDROME 6, INCLUDED | OMIM | 146920.0014 | Disease | p.ILE827THR | AICARDI-GOUTIERES SYNDROME 6 | OMIM | 146920.0002 | Disease | p.LEU878PRO | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | OMIM | 146920.0013 | Disease | p.LYS954ASN | AICARDI-GOUTIERES SYNDROME 6 | OMIM | 146920.0003 | Disease | p.LYS907TER | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | OMIM | 146920.0004 | Disease | p.PHE1120SER | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | OMIM | 146920.0007 | Disease | p.PRO193ALA | AICARDI-GOUTIERES SYNDROME 6 | OMIM | 146920.0012 | Disease | p.TYR1067PHE | AICARDI-GOUTIERES SYNDROME 6 |
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
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