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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT
| DEAFNESS, AUTOSOMAL RECESSIVE, 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (DFNB36)
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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_043455 | Disease | p.ARG774GLN | Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) | | dbSNP | rs3817911 | Polymorphism | p.ARG322HIS | N/A | | Swiss-Prot | VAR_043454 | Disease | p.ASP744ASN | Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) | | Swiss-Prot | VAR_043453 | Disease | p.SER719ARG | Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) | | dbSNP | rs3817910 | Polymorphism | p.TYR323CYS | N/A | | OMIM | 606351.0005 | Disease | p.ARG774GLN | DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT | | OMIM | 606351.0004 | Disease | p.ASP744ASN | DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT | | OMIM | 606351.0003 | Disease | p.SER719ARG | DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT |
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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189037868
ESPN_HUMAN RecName: Full=Espin; AltName: Full=Autosomal recessive deafness type 36 protein; AltName: Full=Ectoplasmic specialization protein
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