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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