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Results for the Protein: Q8WZ04
226693615

TOMT_HUMAN RecName: Full=Transmembrane O-methyltransferase; AltName: Full=Catechol O-methyltransferase 2; AltName: Full=Protein LRTOMT2

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 63
  DEAFNESS, AUTOSOMAL RECESSIVE, 63 (DFNB63)
10
0
4
0
6
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Swiss-Prot Protein: Q8WZ04
Identical to: NP_001138780
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_047556Diseasep.ARG208GLNDeafness, autosomal recessive, 63 (DFNB63)
Swiss-ProtVAR_054955Diseasep.ARG81GLNDeafness, autosomal recessive, 63 (DFNB63)
Swiss-ProtVAR_047555Diseasep.ARG158HISDeafness, autosomal recessive, 63 (DFNB63)
Swiss-ProtVAR_054957Diseasep.GLU110LYSDeafness, autosomal recessive, 63 (DFNB63)
Swiss-ProtVAR_047554Diseasep.LEU16PRODeafness, autosomal recessive, 63 (DFNB63)
Swiss-ProtVAR_054956Diseasep.TRP105ARGDeafness, autosomal recessive, 63 (DFNB63)
OMIM612414.0002 Diseasep.ARG81GLNDEAFNESS, AUTOSOMAL RECESSIVE 63
OMIM612414.0004 Diseasep.GLU110LYSDEAFNESS, AUTOSOMAL RECESSIVE 63
OMIM612414.0003 Diseasep.TRP105ARGDEAFNESS, AUTOSOMAL RECESSIVE 63
OMIM612414.0005 Diseasep.TYR71TERDEAFNESS, AUTOSOMAL RECESSIVE 63



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