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Known Diseases associated with this Protein: | DEAFNESS, AUTOSOMAL DOMINANT 12
| DEAFNESS, AUTOSOMAL DOMINANT, 12 (DFNA12)
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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_066085 | Disease | p.ALA1098VAL | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066094 | Disease | p.ARG1890CYS | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066096 | Disease | p.ARG1947CYS | Deafness, autosomal dominant, 12 (DFNA12) | dbSNP | rs612969 | Polymorphism | p.ARG371GLY | N/A | Swiss-Prot | VAR_018977 | Disease | p.ARG2021HIS | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_036423 | Polymorphism | p.ARG284HIS | N/A | Swiss-Prot | VAR_066080 | Disease | p.ASN465LYS | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066083 | Disease | p.ASN886SER | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_036425 | Polymorphism | p.ASN813THR | N/A | Swiss-Prot | VAR_066076 | Disease | p.ASP197ASN | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066086 | Disease | p.ASP1136HIS | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066089 | Disease | p.CYS1517ARG | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066091 | Disease | p.CYS1837ARG | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066095 | Disease | p.CYS1898ARG | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066088 | Disease | p.CYS1509GLY | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_018975 | Disease | p.CYS1837GLY | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_018970 | Disease | p.CYS1057SER | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_018971 | Disease | p.CYS1619SER | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066084 | Disease | p.CYS1036TYR | Deafness, autosomal dominant, 12 (DFNA12) | dbSNP | rs35507522 | Polymorphism | p.GLN19ARG | N/A | Swiss-Prot | VAR_018974 | Disease | p.GLY1824ASP | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066093 | Disease | p.HIS1867ARG | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_036424 | Polymorphism | p.ILE771ASN | N/A | Swiss-Prot | VAR_066097 | Disease | p.ILE2009THR | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_018973 | Disease | p.LEU1820PHE | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066077 | Disease | p.PHE211SER | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066090 | Disease | p.PRO1791ARG | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066087 | Disease | p.PRO1248LEU | Deafness, autosomal dominant, 12 (DFNA12) | dbSNP | rs2155369 | Polymorphism | p.SER1878ARG | N/A | Swiss-Prot | VAR_018972 | Polymorphism | p.SER1724ASN | N/A | Swiss-Prot | VAR_066079 | Disease | p.SER362CYS | Deafness, autosomal dominant, 12 (DFNA12) | dbSNP | rs34963131 | Polymorphism | p.SER1584THR | N/A | Swiss-Prot | VAR_018978 | Polymorphism | p.SER2100THR | N/A | Swiss-Prot | VAR_066092 | Disease | p.THR1866MET | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066081 | Disease | p.THR562MET | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_066082 | Disease | p.THR815MET | Deafness, autosomal dominant, 12 (DFNA12) | Swiss-Prot | VAR_018976 | Disease | p.TYR1870CYS | Deafness, autosomal dominant, 12 (DFNA12) | dbSNP | rs520805 | Polymorphism | p.VAL932ALA | N/A | Swiss-Prot | VAR_066078 | Disease | p.VAL317GLU | Deafness, autosomal dominant, 12 (DFNA12) | OMIM | 602574.0010 | Disease | p.ARG1890CYS | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0009 | Disease | p.ARG2021HIS | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0011 | Disease | p.CYS1837ARG | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0008 | Disease | p.CYS1837GLY | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0004 | Disease | p.CYS1057SER | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0005 | Disease | p.CYS1619SER | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0001 | Disease | p.GLY1824ASP | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0001 | Disease | p.LEU1820THR | DEAFNESS, AUTOSOMAL DOMINANT 12 | OMIM | 602574.0002 | Disease | p.TYR1870CYS | DEAFNESS, AUTOSOMAL DOMINANT 12 |
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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