Table 3 Variants in the NPHS2 gene in unrelated black South African paediatric FSGS cases (N = 30)
Variant characteristics | SS-FSGS N = 10 | SR-FSGS N = 20 | MAF according to the 1000 Genomes Project combined data | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Exon | SNP ID | cDNA | Protein | Het | Hom | Allele Freq | Het | Hom | Allele Freq | Eur | Afr | Asian |
1 | rs78541594 | 1 | 0 | 0.05 | 2 | 0 | 0.05 | 0.003 | 0.230 | 0 | ||
1 | rs12406197 | 3 | 0 | 0.15 | 7 | 9 | 0.63 | 0.239 | 0.133 | 0.119 | ||
1 | rs1079292 | c.102A>G | p.Gly34Gly | 3 | 5 | 0.65 | 3 | 16 | 0.88 | 0.008 | 0.177 | 0.019 |
1 | rs111306764 | c.144C>T | p.Ser48Ser | 3 | 0 | 0.15 | 2 | 0 | 0.05 | |||
2 | rs3738423 | c.288C>T | p.Ser96Ser | 1 | 0 | 0.05 | 1 | 0 | 0.03 | 0.087 | 0.094 | 0.095 |
4 | COSM900289 | 0 | 0 | 0 | 1 | 0 | 0.03 | – | – | – | ||
5 | rs61747727 | c.725C>T | p.Ala242Vala A242V | 1 | 0 | 0.05 | 4 | 0 | 0.10 | 0 | 0.073 | 0 |
6 | rs775006954 | c.779T>A | p.Val260Glub V260E | 0 | 0 | 0 | 4 | 11 | 0.65 | – | – | – |
8 | rs1410592 | c.954C>T | p.Ala318Ala | 6 | 2 | 0.50 | 9 | 0 | 0.23 | 0.615 | 0.595 | 0.491 |
8 | rs3818587 | c.1038A>G | p.Leu346Leu | 1 | 0 | 0.05 | 1 | 0 | 0.03 | 0.087 | 0.095 | 0.094 |
