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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 59
| DEAFNESS, AUTOSOMAL RECESSIVE, 59 (DFNB59)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_053103 | Polymorphism | p.ARG265CYS | N/A | | dbSNP | rs17304212 | Polymorphism | p.ARG265GLY | N/A | | Swiss-Prot | VAR_027388 | Disease | p.ARG183TRP | Deafness, autosomal recessive, 59 (DFNB59) | | Swiss-Prot | VAR_068891 | Disease | p.CYS343SER | Deafness, autosomal recessive, 59 (DFNB59) | | dbSNP | rs79399438 | Polymorphism | p.GLY292ARG | N/A | | Swiss-Prot | VAR_027387 | Disease | p.THR54ILE | Deafness, autosomal recessive, 59 (DFNB59) | | OMIM | 610219.0004 | Disease | p.ARG167TER | DEAFNESS, AUTOSOMAL RECESSIVE 59 | | OMIM | 610219.0001 | Disease | p.ARG183TRP | DEAFNESS, AUTOSOMAL RECESSIVE 59 | | OMIM | 610219.0002 | Disease | p.THR54ILE | DEAFNESS, AUTOSOMAL RECESSIVE 59 |
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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114152117
PJVK_HUMAN RecName: Full=Pejvakin; AltName: Full=Autosomal recessive deafness type 59 protein
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