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Known Diseases associated with this Protein: | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
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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 | rs6356 | Polymorphism | p.VAL81MET | N/A | OMIM | 191290.0012 | Disease | p.ARG171HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0003 | Disease | p.ARG202HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0004 | Disease | p.ARG306HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0011 | Disease | p.CYS328PHE | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0001 | Disease | p.GLN381LYS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0002 | Disease | p.LEU205PRO | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0007 | Disease | p.THR283MET | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0005 | Disease | p.THR463MET | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0006 | Disease | p.THR245PRO | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE |
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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