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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 63
| DEAFNESS, AUTOSOMAL RECESSIVE, 63 (DFNB63)
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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_047556 | Disease | p.ARG208GLN | Deafness, autosomal recessive, 63 (DFNB63) | | Swiss-Prot | VAR_054955 | Disease | p.ARG81GLN | Deafness, autosomal recessive, 63 (DFNB63) | | Swiss-Prot | VAR_047555 | Disease | p.ARG158HIS | Deafness, autosomal recessive, 63 (DFNB63) | | Swiss-Prot | VAR_054957 | Disease | p.GLU110LYS | Deafness, autosomal recessive, 63 (DFNB63) | | Swiss-Prot | VAR_047554 | Disease | p.LEU16PRO | Deafness, autosomal recessive, 63 (DFNB63) | | Swiss-Prot | VAR_054956 | Disease | p.TRP105ARG | Deafness, autosomal recessive, 63 (DFNB63) | | OMIM | 612414.0002 | Disease | p.ARG81GLN | DEAFNESS, AUTOSOMAL RECESSIVE 63 | | OMIM | 612414.0004 | Disease | p.GLU110LYS | DEAFNESS, AUTOSOMAL RECESSIVE 63 | | OMIM | 612414.0003 | Disease | p.TRP105ARG | DEAFNESS, AUTOSOMAL RECESSIVE 63 | | OMIM | 612414.0005 | Disease | p.TYR71TER | DEAFNESS, AUTOSOMAL RECESSIVE 63 |
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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226693615
TOMT_HUMAN RecName: Full=Transmembrane O-methyltransferase; AltName: Full=Catechol O-methyltransferase 2; AltName: Full=Protein LRTOMT2
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