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Known Diseases associated with this Protein: |  BART-PUMPHREY SYNDROME (BPS)
| DEAFNESS, AUTOSOMAL DOMINANT 3A
| DEAFNESS, AUTOSOMAL DOMINANT 3A, INCLUDED
| DEAFNESS, AUTOSOMAL DOMINANT, 3A (DFNA3A)
| DEAFNESS, AUTOSOMAL RECESSIVE 1A
| DEAFNESS, AUTOSOMAL RECESSIVE 1A, INCLUDED
| DEAFNESS, AUTOSOMAL RECESSIVE, 1A (DFNB1A)
| HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, INCLUDED
| KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME (KID SYNDROME)
| KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
| KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
| KERATODERMA, PALMOPLANTAR, WITH DEAFNESS (PPKDFN)
| KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
| VOHWINKEL SYNDROME
| VOHWINKEL SYNDROME (VS)
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|  | Tips: The Domains on the Default View are decided by HMMER's search E-Value of the Protein against the Domain model. Clicking a check box on the left will display or hide the corresponding domain(s). To view the Protein page, either click on the protein links in the box to the left or the blue bar above the Protein's graphic. |
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Domains found on the Proteins
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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GJB2
2706
72
21
30
2
61
