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Table 4 Prediction of the potential pathogenic effect of novel missense variants of OTC gene

From: Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Mutation Domain PROVEANa PolyPhen-2b SIFTc Mutation tasterd Conservation
D41A β-sheet in polar domain Deleterious Benign Damaging 126 Conserved
Q235P α-helix in equatorial domain Neutral Benign Damaging 76 Conserved
T287I Surface of the enzyme Deleterious Probably damaging Damaging 89 Conserved
P305S Ornithine binding domain Deleterious Probably damaging Damaging 74 Conserved
  1. aPROVEAN prediction: default threshold is − 2.5, that is variants with a score equal to or below -2.5 are considered “deleterious”, whereas variants with a score above − 2.5 are considered “neutral”
  2. bPolyPhen-2 prediction: probably damaging with a score of 1, in contrast, possibly damaging with a score under 1
  3. cSIFT prediction: amino acids with probabilities < 0.05 are predicted to be deleterious, whereas variants with a score above 0.05 are considered “neutral”
  4. dMutation taster prediction: scores range from 0.0 to 215. The more they score, the more deleterious protein mutations
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