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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 18A
| USHER SYNDROME, TYPE IC
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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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| dbSNP | rs1064074 | Polymorphism | p.GLU519ASP | N/A | | dbSNP | rs115931035 | Polymorphism | p.GLY421SER | N/A | | dbSNP | rs55843567 | Polymorphism | p.VAL130ILE | N/A | | OMIM | 605242.0011 | Disease | p.ARG103HIS | USHER SYNDROME, TYPE IC | | OMIM | 605242.0009 | Disease | p.ARG1PRO | DEAFNESS, AUTOSOMAL RECESSIVE 18A | | OMIM | 605242.0007 | Disease | p.ARG31TER | USHER SYNDROME, TYPE IC | | OMIM | 605242.0010 | Disease | p.VAL130ILE | USHER SYNDROME, TYPE IC |
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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160113087
USH1C_HUMAN RecName: Full=Harmonin; AltName: Full=Antigen NY-CO-38/NY-CO-37; AltName: Full=Autoimmune enteropathy-related antigen AIE-75; AltName: Full=Protein PDZ-73; AltName: Full=Renal carcinoma antigen NY-REN-3; AltName: Full=Usher syndrome type-1C protein
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