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Known Diseases associated with this Protein: | SEGAWA SYNDROME AUTOSOMAL RECESSIVE (ARSEGS)
| 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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Swiss-Prot | VAR_014026 | Disease | p.ARG233HIS | Segawa syndrome autosomal recessive (ARSEGS) | Swiss-Prot | VAR_014030 | Disease | p.ARG337HIS | Segawa syndrome autosomal recessive (ARSEGS) | Swiss-Prot | VAR_014031 | Disease | p.GLN412LYS | Segawa syndrome autosomal recessive (ARSEGS) | Swiss-Prot | VAR_014027 | Disease | p.LEU236PRO | Segawa syndrome autosomal recessive (ARSEGS) | Swiss-Prot | VAR_014029 | Disease | p.THR314MET | Segawa syndrome autosomal recessive (ARSEGS) | Swiss-Prot | VAR_014032 | Disease | p.THR494MET | Segawa syndrome autosomal recessive (ARSEGS) | Swiss-Prot | VAR_014028 | Disease | p.THR276PRO | Segawa syndrome autosomal recessive (ARSEGS) | dbSNP | rs6356 | Polymorphism | p.VAL112MET | N/A | Swiss-Prot | VAR_014033 | Polymorphism | p.VAL499MET | N/A | OMIM | 191290.0012 | Disease | p.ARG202HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0003 | Disease | p.ARG233HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0004 | Disease | p.ARG337HIS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0011 | Disease | p.CYS359PHE | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0001 | Disease | p.GLN412LYS | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0002 | Disease | p.LEU236PRO | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0007 | Disease | p.THR314MET | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0005 | Disease | p.THR494MET | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 191290.0006 | Disease | p.THR276PRO | 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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