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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 15
| DEAFNESS, AUTOSOMAL RECESSIVE, 15 (DFNB15)
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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_065970 | Disease | p.ARG189CYS | Deafness, autosomal recessive, 15 (DFNB15) | | Swiss-Prot | VAR_065967 | Disease | p.GLY46ARG | Deafness, autosomal recessive, 15 (DFNB15) | | Swiss-Prot | VAR_065972 | Disease | p.GLY256ASP | Deafness, autosomal recessive, 15 (DFNB15) | | Swiss-Prot | VAR_065969 | Disease | p.GLY94ASP | Deafness, autosomal recessive, 15 (DFNB15) | | Swiss-Prot | VAR_065973 | Disease | p.LEU262ARG | Deafness, autosomal recessive, 15 (DFNB15) | | Swiss-Prot | VAR_065968 | Disease | p.MET88ILE | Deafness, autosomal recessive, 15 (DFNB15) | | Swiss-Prot | VAR_065971 | Disease | p.THR221ILE | Deafness, autosomal recessive, 15 (DFNB15) | | OMIM | 608792.0006 | Disease | p.ARG189CYS | DEAFNESS, AUTOSOMAL RECESSIVE 15 | | OMIM | 608792.0005 | Disease | p.GLY46ARG | DEAFNESS, AUTOSOMAL RECESSIVE 15 | | OMIM | 608792.0004 | Disease | p.GLY256ASP | DEAFNESS, AUTOSOMAL RECESSIVE 15 | | OMIM | 608792.0001 | Disease | p.LEU262ARG | DEAFNESS, AUTOSOMAL RECESSIVE 15 | | OMIM | 608792.0002 | Disease | p.TRP301TER | DEAFNESS, AUTOSOMAL RECESSIVE 15 |
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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74716119
GIPC3_HUMAN RecName: Full=PDZ domain-containing protein GIPC3
12
0
5
0
7
