Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children

Table 2 Gene variants and pathogenic analysis in 4 patients with NUP variants

	Gene	Mutation	From	Amino acid	Ployphen2	Mutation Taster	ACMG
Patient 1	NUP93	c.1235A>C	Father	p.Tyr412Ser	1.00	D	PM2+PP2+PP3
Patient 1	NUP93	c.1286A>G	Mother	p.Tyr429Cys	0.655	D	PM2+PP2+PP3
Patient 2	NUP107	c.1199G>A	Father	p.Gly400Glu	1.00	D	PM2+PP2+PP3
Patient 2	NUP107	c.580C>T	Mother	p.Arg194*	NA	D	PVS1+PM1+PM2
Patient 3	NUP107	c.2564delC	Father	p.Pro855fsTer*23	NA	D	PVS1+PM1+PM2
Patient 3	NUP107	c.2753C>T	Mother	p.Pro918Leu	1.00	D	PM2+PM3+PP3
Patient 4	NUP160	c.3656T>G	Father	p.Leu1219Trp	1.00	N	PM2+PM3+PP3
Patient 4	NUP160	c.2241+1G>T	Mother	NA	NA	D	PVS1+PM2

ISSN: 1824-7288