Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene

Table 3 Prediction of pathogenic mutations in R320P and V323G

No.	Nucleotide alteration	Amino acid alteration	Clinical significance	Pathogenicity prediction
No.	Nucleotide alteration	Amino acid alteration	Clinical significance	MutPred2	PolyPhen-2
1	c. 959G > C	p. Arg320Pro	VUS	0.780	1.000
2	c.968T > G	p.Val323Gly	VUS	0.922	1.000

ISSN: 1750-1172