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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_069088 | Disease | p.CYS99TRP | Deafness, autosomal recessive, 48 (DFNB48) | | Swiss-Prot | VAR_069086 | Disease | p.GLU64ASP | Usher syndrome 1J (USH1J) | | Swiss-Prot | VAR_069089 | Disease | p.ILE123THR | Deafness, autosomal recessive, 48 (DFNB48) | | Swiss-Prot | VAR_069087 | Disease | p.PHE91SER | Deafness, autosomal recessive, 48 (DFNB48) | | OMIM | 605564.0002 | Disease | p.CYS99TRP | DEAFNESS, AUTOSOMAL RECESSIVE 48 | | OMIM | 605564.0004 | Disease | p.GLU64ASP | USHER SYNDROME, TYPE IJ | | OMIM | 605564.0003 | Disease | p.ILE123THR | DEAFNESS, AUTOSOMAL RECESSIVE 48 | | OMIM | 605564.0001 | Disease | p.PHE91SER | DEAFNESS, AUTOSOMAL RECESSIVE 48 |
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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12230235
CIB2_HUMAN RecName: Full=Calcium and integrin-binding family member 2; AltName: Full=Kinase-interacting protein 2; Short=KIP 2
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