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

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

Mutation	Domain	PROVEAN^a	PolyPhen-2^b	SIFT^c	Mutation taster^d	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

^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”
^bPolyPhen-2 prediction: probably damaging with a score of 1, in contrast, possibly damaging with a score under 1
^cSIFT prediction: amino acids with probabilities < 0.05 are predicted to be deleterious, whereas variants with a score above 0.05 are considered “neutral”
^dMutation taster prediction: scores range from 0.0 to 215. The more they score, the more deleterious protein mutations

ISSN: 1750-1172