Mutations in CCNB3 affect its location thus causing a multiplicity of phenotypes in human oocytes maturation by aberrant CDK1 activity and APC/C activity at different stages

Table 4 CCNB3 pathogenic variants observed in 5 patients

Patient	cDNA change	Protein change	Mutation type	ExAC_EAS^a	gnomAD_EAS^b	Genotype	SIFT^c	Polyphen2^c	CADD ^c	REVEL ^c	MutationTaster ^c
Patient1	c.A347C	p.E116A	Missense Mutation	NA	NA	Heterozygous	Damaging	Possibly damaging	18.27	0.109	Polymorphism
Patient2	c.A662C	p.E221A	Missense Mutation	NA	NA	Heterozygous	Damaging	Possibly damaging	19.06	0.171	Polymorphism
Patient3	c.C3668T	p.P1223L	Missense Mutation	0.0003	0.0002	Heterozygous	Damaging	Damaging	24.7	0.213	Disease causing
Patient4 and 5	c.G4058A	p.S1353N	Missense Mutation	NA	0.0000777	Heterozygous	Tolerated	Benign	0.003	0.051	Polymorphism

a Frequency of corresponding mutations in the East Asian population of the ExAC Browser.
b Frequency of corresponding mutations in gnomAD.
c Mutation assessment by Sift, Polyphen-2 (PPH2), CADD, REVEL, MutationTaster
NA-not available

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