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Table 1 Two missense variants in the shared haplotype region of hydrallantois as revealed by exome sequencing

From: A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle

  Polyphen-2b SIFTc
Chr SNPa Gene symbol Substitution Prediction Score Prediction Score
10 g.62111230G > A FBN1 p.V2290I benign 0 tolerated 0.36
10 g.62382825G > A SLC12A1 p.P372L probably damaging 0.993 deleterious 0
  1. Exome sequencing of two affected fetuses with homozygous risk-haplotype and two unaffected calves without risk-haplotype
  2. aPositions are based on the UMD3.1 assembly of the bovine genome
  3. bPolyphen-2 score represents the probability that a substitution is deleterious, with values nearer 1 indicating more confident predictions
  4. cSIFT score is the normalized probability that a substitution is tolerated, with values nearer 0 being more likely to be deleterious