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Results for the Protein: Q8IXL7
327478523

MSRB3_HUMAN RecName: Full=Methionine-R-sulfoxide reductase B3; Short=MsrB3; Flags: Precursor

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 74
  DEAFNESS, AUTOSOMAL RECESSIVE, 74 (DFNB74)
3
0
2
0
1
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Default View:

COG0229 - COG0229
SelR - pfam01641


Swiss-Prot Protein: Q8IXL7
Identical to: NP_932346
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0229COG02292.3e-8342184
SelRpfam016411.8e-7547169

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064904Diseasep.CYS89GLYDeafness, autosomal recessive, 74 (DFNB74)
OMIM613719.0002 Diseasep.ARG19TERDEAFNESS, AUTOSOMAL RECESSIVE 74
OMIM613719.0001 Diseasep.CYS89GLYDEAFNESS, AUTOSOMAL RECESSIVE 74



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