Table 3.

Variations of WEE2 in affected cases with fertilization failure/poor fertilization

Location	Sequence variation	Amino acid change	Mutation type	Compound Het/Homo	Function	Phenotype MII 2PN		References
Exon 1	c.220_223delAAAG	p.Glu75Valfs*6	Frameshift	Homozygous	Protein degradation; Decreased pY15 of Cdc2	18	0	[6]
Exon 1	c.293_294ins	p.Pro98Pro fsX2	Frameshift	Homozygous		19	1	[12]
Exon 1/Exon 4	c.220_223delAAAG c. 598C > T	p.E75Vfs*6 p.R200X	Frameshift Nonsense	Compound heterozygous		7	0	[11]
Exon 1/Exon 5	c.341_342delAA c.864G > C	p.Lys114Asn fsX20 p.Gln288His	Frameshift Missense	Compound heterozygous		22	0	[12]
Exon 1/ Exon 8	c.220_223delAAAG c.1221G > A	p.E75Vfs*6 p.D408Vfs*1	Frameshift Splicing	Compound heterozygous	Splicing mutation resulted in a predicted truncated protein	27	0	[11]
Exon 1/Exon 9	c.1A > G c.1261G > A	p.0? p.Gly421Arg	Frameshift Missense	Compound heterozygous		25	0	[12]
Exon 3	c. 585G > C	p.Lys195Asn	Missense	Homozygous	No phosphorylated CDC2	14	0	[14]
Exon 4	c.619C > T	p. R207C	Missense	Homozygous	May breaking the hydrogen bonds with E211 and S277	40	0	[10]
Exon 4	c.700G > C	p.Asp234His	Missense	Homozygous	Decreased WEE2 protein; Decreased tyrosine 15 phosphorylation (pY15) of Cdc2	3	0	[6]
Exon 4/Exon 6	c. 725G > C c. 997 T > C	p.R242P p.S333P	Missense Missense	Compound heterozygous		4	0	[11]
Exon 4/ Exon 9	c.598C > T c.1319G > C	p.Arg200Ter p.Trp440Ser	Missense Missense	Compound heterozygous	Truncated protein Abnormal subcellular localization and reduced WEE2	37	0	[13]
Exon 6	c.1006_1007insTA	p.His337Tyrfs*24	Frameshift	Homozygous	Protein degradation; Decreased pY15 of Cdc2	64	0	[6, 14]
Exon 6/IVS 7	c.1006_1007dup c.1136-2A > G	p.His337Tyrfs*24 p.Gly379Glufs*6/p Asp380Leufs*39	Frameshift Splicing	Compound heterozygous	Decreased WEE2 protein; No phosphorylated CDC2	19	0	[14]
Exon 6/Exon 9	c.991C > A/c.1304_1307delCCAA	p.His331Asn p.Thr435Met fsX31	Missense Frameshift	Compound heterozygous		27	0	[12]
Exon 6/Exon 9	c.1006_1007insTA c.1286_1288delGAG	p.H337Yfs*24 p.G429del	Frameshift Deletion	Compound heterozygous		42	0	[11]
Exon 8	c. 1184G > A	p.G395E	Missense	Homozygous		18	0	[11]
Exon 9	c.1228C > T	p.Arg410Trp	Missense	Homozygous		71	6	[11, 14]
Exon 10	c.1473dupA	p.Thr493Asnfs*39	Frameshift	Homozygous	Decreased WEE2 protein; Decreased pY15 of Cdc2	8	0	[6]
Exon11	c.1576T > G	p.Tyr526Asp	Missense	Homozygous		27	1	[12]

MII total fertilization failure metaphase II, PN pronuclei