Table 3.

The frequencies of MCCC2 gene mutations of the17 neonatal patients with 3-MCCD.

No.	Gene	Nucleotide variants	Amino acid change	Frequencies (%)	Mutationty pe	References
1	MCCC2	c.351_353delTGG	p.G118del	50	Frameshift	Grunert et al. (2012) [4]
2	MCCC2	c.1103delG	p.G368Vfs*70	16.7	Frameshift	Wang et al. (2019) [19]
3	MCCC2	c.592C > T	p.Q198*	11.1	Nonsense	Grunert et al. (2012) [4]
4	MCCC2	c.1367C > T	p.A456V	5.6	Missense	Grunert et al. (2012) [4]
5	MCCC2	c.914 A > G	p.E305G	5.6	Missense	Cheng et al. (2023) [20]
6	MCCC2	c.440delG▪	p.P147Qfs*2	5.6	Frameshift	This study
7	MCCC2	c.709G > A▪	p.G237S	5.6	Missense	This study

MCCC2(NM_022132.5).