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DBR1

From SNPedia
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ClinVarDBR1
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23andMeDBR1
# SNPs1
 Max MagnitudeChromosome positionSummary
rs1496100793138,167,206

The DBR1 gene located on chromosome 3 encodes a protein called debranching enzyme 1. This protein is only one known in humans to be involved with 'debranching' RNA lariats, which facilitates their turnover.

Four mutations in the DBR1 gene have been reported to cause (when inherited in homozygous or compound heterozygous form) a strong predisposition for brainstem infection by viruses such as HSV (herpes), IV (influenza) and NV (noroviruses), among at least 20 such viruses. Brainstem encephalitis affecting children may result in high mortality and long-term medical consequences.[PMID 29474921]; news

The reported mutations include:

  • c.589C>T (p.R197X); rs149610079
  • c.37-38CT>GG (p.L13G); no rsID
  • c.49T>C (p.Y17H); no rsID
  • c.359T>C (p.I120T); no rsID (yet)