Table 3 Variations of WEE2 in affected cases with fertilization failure/poor fertilization

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]