Table 1.

NPHS2 sequence variants identified in the Polish population of patients with steroid-resistant nephrotic syndrome (SRNS)

Exon (intron)	Nucleotide change	Amino acid change	Effect	Genotype			Geographical distribution of the allele	Positive family history	Consanguinity
				Homozygous	Compound heterozygous	Carrier
A. Nonsense and frameshift mutations
8	c.948delT	p.Ala317Leufs*31	Pathogenic	0	1	0	Central and Eastern Europe (Hungary, Poland, Germany)	None	None
							Ruf et al. (2004); Kerti et al. (2013)
8	c.1032delT	p.Phe344Leufs*5	Pathogenic	0	11	0	Poland (Kashubian region), Germany	10/11 AR (five families)	1
							Hinkes et al. (2007)
B. Missense variants
2	c.322A>G	p.Ile108Val	Benign?	0	0	1	Novel	None	None
3	c.413G>A	p.Arg138Gln	Pathogenic	4	0	1	The most common in Europe (France, Germany, Italy, Switzerland, Spain, Hungary, Poland, Czech Republic)	1/5 AR (one family)	None
							Weber et al. (2004); Ruf et al. (2004); Caridi et al. (2009); Santín et al. (2011b); Kerti et al. (2013)
5	c.622G>A	p.Ala208Thr	Pathogenic	0	1	0	The Netherlands, France, Poland	None	None
							Löwik et al. (2003); Weber et al. (2004)
5	c.686G>A	p.Arg229Gln	Risk factor	2	14	8	Polymorphism common in European populations	15/24 AR (nine families)	1
							Machuca et al. (2009)
5	c.732T>C	p.(=)	Benign?	0	0	1	Novel	None	None
7	c.868G>A	p.Val290Met	Pathogenic	0	1	1	Central and Eastern Europe (Hungary, Poland, Germany), Turkey	None	None
							Kerti et al. (2013)
8	c.890C>T	p.Ala297Val	Pathogenic	0	2	0	Poland, Czech-American, North Africa	2/2 AR (one family)	None
							Tsukaguchi et al. (2002); Machuca et al. (2009)
C. Splice-site variants
7/8	c.873+1G>A	p.?	Pathogenic?	1	0	0	Novel	None	1

AR autosomal recessive inheritance