Table 1 Non-synonymous NPHS2 variants detected
From: NPHS2variation in focal and segmental glomerulosclerosis
Type of variant | Nucleotide change | Effect on coding sequence | Exon | Heterozygous (n, %) | Homozygous (n, %) | Frequency in Familial FSGS | Frequency in Sporadic FSGS |
|---|---|---|---|---|---|---|---|
missense | c.29G>C | p.R10T | 1 | 1, 0.27% | - | N = 0 | N = 1 (1/249, 0.4%) |
| Â | c.379G>T | p.V127W | 2 | - | 1, 0.27% | N = 0 | N = 1 (1/249, 0.4%) |
| Â | c.413G>A | p.R138Q | 3 | 5, 1.3% | 1, 0.27% | N = 5 (5/122, 4%) | N = 1 (1/249, 0.4%) |
| Â | c.538G>A | p.V180M | 5 | - | 1, 0.27% | N = 1 (1/122, 0.8%) | N = 0 |
| Â | c.643C>T | p.Q215X | 5 | 1, 0.27% | - | N = 1 (1/122, 0.8%) | N = 0 |
| Â | c.686G>A | p.R229Q | 5 | 40, 10.8% | 1, 0.27% | N = 10 (10/122, 8.2%) | N = 31 (31/249, 12.5%) |
| Â | c.694C>T | p.T232I | 5 | 1, 0.27% | - | N = 0 | N = 1 (1/249, 0.4%) |
| Â | c.709G>C | p.E237Q | 5 | 1, 0.27% | - | N = 0 | N = 1 (1/249, 0.4%) |
| Â | c.725C>T | p.A242V | 5 | 14, 3.7% | 1, 0.27% | N = 1 (1/122, 0.8%) | N = 14 (14/249, 5.6%) |
| Â | c.810G>T | p.L270F | 6 | 1, 0.27% | - | N = 0 | N = 1 (1/249, 0.4%) |
| Â | c.851C>T | p.A284V | 7 | 2, 0.5% | 1, 0.27% | N = 0 | N = 3 (3/249, 1.2%) |
| Â | c.934C>G | p.L312V | 8 | 1, 0.27% | - | N = 1 (1/122, 0.8%) | N = 0 |
| Â | c.1048C>T | p.L327F | 8 | 1, 0.27% | - | N = 0 | N = 1 (1/249, 0.4%) |
Frame-shift | 397delA | Frame-shift | 3 | 1, 0.27% | - | N = 0 | N = 1 (1/249, 0.4%) |
| Â | 855/6delAA | Frame-shift | 7 | 1, 0.27% | - | N = 0 | N = 1 (1/249, 0.4%) |