Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam

Table 2

Distribution of G6PD variants in this study.

Variant name	Position	Amino acid substitution	Type of variant	Exon	Case	Frequently (%)	In silico analysis
Gaohe	c.95A>G	H32A	Missense	2	24	7.08	Damaging score: 0.998
Orissa	c.131C>G	A44G	Missense	3	3	0.88	Damaging score: 991
Quing Yan	c.392G>T	G131V	Missense	5	12	3.54	Damaging score: 0.826
Valladolid	c.406C>T	L142C	Missense	5	2	0.59	Damaging score: 1
NanKang	c.517T>G	F173L	Missense	5	1	0.29	Damaging score: 1
Mediterranean	c.563C>T	S188P	Missense	5	1	0.29	Benign score: 0.371
Coimbra Shunde	c.592C>T	R198C	Missense	6	1	0.29	Damaging score: 1
Viangchan	c.871G>A	V291M	Missense	9	83	24.48	Damaging score: 0.996
Chinese-5	c.1024C>T	L342F	Missense	9	14	4.13	Benign score: 0.205
Taiwan-2	c.1330 G > A	V444I	Missense	11	1	0.29	Benign score: 0.127
Union	c.1360C>T	R454C	Missense	11	51	15.04	Damaging score: 1
Canton	c.1376G>T	R459L	Missense	12	60	17.70	Damaging score: 0.910
Kaiping	c.1388G>A	R463H	Missense	12	76	22.42	Damaging score: 0.860
Silent	c.1311C>T	T437T	Silent	11	87	25.66	N/A
Valladolid/Silent	c.406C>T	A142C	Missense	5, 11	2	0.59	N/A
	c.1311C>T	T437T	/Silent
Viangchan/Silent	c.871G>A	V291M	Missense	9, 12	69	20.35	N/A
	c.1311C>T	T437T	/Silent
Union/Silent	c.1360C>T	R454C	Missense	11	7	2.06	N/A
	c.1311C>T	T437T	/Silent
Canton/Silent	c.1376G>T	R459L	Missense	11, 12	2	0.59	N/A
	c.1311C>T	T437T	/Silent
Kaiping/Silent	c.1388G>T	R463H	Missense	11, 12	3	0.88	N/A
	c.1311C>T	T437T	/Silent
Canton/Kaiping	c.1376G>T c.1388G>A	R459L, R463H	Missense	12	1	0.29	N/A