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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 23
| USHER SYNDROME, TYPE IF
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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 | rs2135720 | Polymorphism | p.ARG858GLN | N/A | | dbSNP | rs4935502 | Polymorphism | p.ASP435ALA | N/A | | dbSNP | rs10825269 | Polymorphism | p.GLY380SER | N/A | | dbSNP | rs79854148 | Polymorphism | p.ILE1834VAL | N/A | | dbSNP | rs11004439 | Polymorphism | p.SER19ALA | N/A | | OMIM | 605514.0007 | Disease | p.ARG129GLY | DEAFNESS, AUTOSOMAL RECESSIVE 23 | | OMIM | 605514.0004 | Disease | p.ARG240TER | USHER SYNDROME, TYPE IF | | OMIM | 605514.0002 | Disease | p.ARG3TER | USHER SYNDROME, TYPE IF | | OMIM | 605514.0006 | Disease | p.GLY257ASP | DEAFNESS, AUTOSOMAL RECESSIVE 23 | | OMIM | 605514.0009 | Disease | p.SER1TER | USHER SYNDROME, TYPE IF | | OMIM | 605514.0010 | Disease | p.VAL523ASP | DEAFNESS, AUTOSOMAL RECESSIVE 23 |
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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protocadherin-15 isoform CD1-6 precursor [Homo sapiens]
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