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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE, 84A (DFNB84A)
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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_034972 | Polymorphism | p.ALA1120PRO | N/A | | Swiss-Prot | VAR_063526 | Disease | p.ARG281GLY | Deafness, autosomal recessive, 84A (DFNB84A) | | Swiss-Prot | VAR_034975 | Polymorphism | p.ARG2121LYS | N/A | | Swiss-Prot | VAR_034973 | Polymorphism | p.ASN1244ASP | N/A | | Swiss-Prot | VAR_069041 | Polymorphism | p.GLN471GLU | N/A | | Swiss-Prot | VAR_034974 | Polymorphism | p.ILE1734THR | N/A | | Swiss-Prot | VAR_034971 | Polymorphism | p.PHE1098LEU | N/A | | Swiss-Prot | VAR_034970 | Polymorphism | p.THR1040ILE | N/A |
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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158563998
PTPRQ_HUMAN RecName: Full=Phosphatidylinositol phosphatase PTPRQ; AltName: Full=Receptor-type tyrosine-protein phosphatase Q; Short=PTP-RQ; Short=R-PTP-Q; Flags: Precursor
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