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Known Diseases associated with this Protein: | DEAFNESS, AUTOSOMAL DOMINANT 9
| DEAFNESS, AUTOSOMAL DOMINANT, 9 (DFNA9)
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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_017175 | Disease | p.ALA119THR | Deafness, autosomal dominant, 9 (DFNA9) | Swiss-Prot | VAR_022260 | Polymorphism | p.ASP281ASN | N/A | Swiss-Prot | VAR_070034 | Disease | p.CYS162TYR | Deafness, autosomal dominant, 9 (DFNA9) | dbSNP | rs17097468 | Polymorphism | p.GLU518GLY | N/A | Swiss-Prot | VAR_022259 | Polymorphism | p.GLY135ARG | N/A | Swiss-Prot | VAR_008534 | Disease | p.GLY88GLU | Deafness, autosomal dominant, 9 (DFNA9) | Swiss-Prot | VAR_008535 | Disease | p.ILE109ASN | Deafness, autosomal dominant, 9 (DFNA9) | Swiss-Prot | VAR_022261 | Polymorphism | p.ILE402VAL | N/A | Swiss-Prot | VAR_008532 | Disease | p.PRO51SER | Deafness, autosomal dominant, 9 (DFNA9) | Swiss-Prot | VAR_011926 | Polymorphism | p.PRO532SER | N/A | dbSNP | rs1045644 | Polymorphism | p.THR352SER | N/A | Swiss-Prot | VAR_008536 | Disease | p.TRP117ARG | Deafness, autosomal dominant, 9 (DFNA9) | Swiss-Prot | VAR_008533 | Disease | p.VAL66GLY | Deafness, autosomal dominant, 9 (DFNA9) | OMIM | 603196.0006 | Disease | p.ALA119THR | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0007 | Disease | p.CYS542PHE | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0008 | Disease | p.CYS542TYR | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0002 | Disease | p.GLY88GLU | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0005 | Disease | p.ILE109ASN | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0009 | Disease | p.MET512THR | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0004 | Disease | p.PRO51SER | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0003 | Disease | p.TRP117ARG | DEAFNESS, AUTOSOMAL DOMINANT 9 | OMIM | 603196.0001 | Disease | p.VAL66GLY | DEAFNESS, AUTOSOMAL DOMINANT 9 |
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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