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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL DOMINANT 2A
| DEAFNESS, AUTOSOMAL DOMINANT, 2A (DFNA2A)
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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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| Swiss-Prot | VAR_065779 | Disease | p.GLY287ARG | Deafness, autosomal dominant, 2A (DFNA2A) | | Swiss-Prot | VAR_008727 | Disease | p.GLY285CYS | Deafness, autosomal dominant, 2A (DFNA2A) | | Swiss-Prot | VAR_001547 | Disease | p.GLY285SER | Deafness, autosomal dominant, 2A (DFNA2A) | | Swiss-Prot | VAR_008728 | Disease | p.GLY321SER | Deafness, autosomal dominant, 2A (DFNA2A) | | dbSNP | rs34287852 | Polymorphism | p.HIS455GLN | N/A | | Swiss-Prot | VAR_010936 | Disease | p.LEU274HIS | Deafness, autosomal dominant, 2A (DFNA2A) | | Swiss-Prot | VAR_010937 | Disease | p.LEU281SER | Deafness, autosomal dominant, 2A (DFNA2A) | | Swiss-Prot | VAR_008726 | Disease | p.TRP276SER | Deafness, autosomal dominant, 2A (DFNA2A) | | OMIM | 603537.0004 | Disease | p.GLY285CYS | DEAFNESS, AUTOSOMAL DOMINANT 2A | | OMIM | 603537.0001 | Disease | p.GLY285SER | DEAFNESS, AUTOSOMAL DOMINANT 2A | | OMIM | 603537.0009 | Disease | p.GLY296SER | DEAFNESS, AUTOSOMAL DOMINANT 2A | | OMIM | 603537.0003 | Disease | p.GLY321SER | DEAFNESS, AUTOSOMAL DOMINANT 2A | | OMIM | 603537.0007 | Disease | p.LEU274HIS | DEAFNESS, AUTOSOMAL DOMINANT 2A | | OMIM | 603537.0006 | Disease | p.LEU281SER | DEAFNESS, AUTOSOMAL DOMINANT 2A | | OMIM | 603537.0002 | Disease | p.TRP276SER | DEAFNESS, AUTOSOMAL DOMINANT 2A |
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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KCNQ4_HUMAN RecName: Full=Potassium voltage-gated channel subfamily KQT member 4; AltName: Full=KQT-like 4; AltName: Full=Potassium channel subunit alpha KvLQT4; AltName: Full=Voltage-gated potassium channel subunit Kv7.4
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