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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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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs6356 | Polymorphism | p.VAL108MET | N/A | | OMIM | 191290.0012 | Disease | p.ARG198HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0003 | Disease | p.ARG229HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0004 | Disease | p.ARG333HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0011 | Disease | p.CYS355PHE | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0001 | Disease | p.GLN408LYS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0002 | Disease | p.LEU232PRO | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0007 | Disease | p.THR310MET | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0005 | Disease | p.THR490MET | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | | OMIM | 191290.0006 | Disease | p.THR272PRO | 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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88900505
tyrosine 3-monooxygenase isoform c [Homo sapiens]
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