Table 2.

The frequencies of MCCC1gene mutations of the17 neonatal patients with 3-MCCD.

No.	Gene	Nucleotide variants	Amino acid change	Frequencies (%)	Mutationtype	References
1	MCCC1	c.1331G > A	p.R444H	31.3	Missense	Cheng et al. (2023) [20]
2	MCCC1	c.639 + 5G > T	/	12.5	Splicing	Cheng et al. (2023) [20]
3	MCCC1	c.617C > T▪	p.A206V	12.5	Missense	This study
4	MCCC1	c.227_228delTG	p.V76Gfs*4	6.3	Frameshift	Grunert et al. (2012) [4]
5	MCCC1	c.1630delA▪	p.R544Dfs*2	6.3	Frameshift	This study
6	MCCC1	c.1894C > T	p.P632S	6.3	Missense	Shepard et al. (2015) [32]
7	MCCC1	c.655_657delins GAAAT▪	p.R219Efs*11	6.3	Frameshift	This study
8	MCCC1	c.1450G > A	p.V484M	6.3	Missense	Hong et al. (2017) [22]
9	MCCC1	c.639 + 2 T > A	p.S164Rfs*3	6.3	Frameshift	Grunert et al. (2012) [4]
10	MCCC1	c.196C > T	p.R66C	6.3	Missense	Cheng et al. (2023) [20]

MCCC1(NM_020166.5).