Table 1 The synonymous mutations detected in FSGS patients and compared with controls from 1000 Genomes Project
Exon | dbSNP144 | Position | Transcript consequence | Protein consequence | Patients(n = 309) | Controls(n = 2504) | P value | Bonferroni-corrected P value | Nephrin domain | Initial phenotype |
|---|---|---|---|---|---|---|---|---|---|---|
2 | rs114385015 | 35851580 | c.C151T | p.L51 L | 2((0.65%) | 9 (0.36%) | 0.35 | > 0.05 | Ig 1 | Unknown |
3 | rs2285450 | 35851365 | c.C294T | p.I98I | 93 (30.10%) | 157 (6.27%) | 2.35 × 10−31 | 7.51 × 10− 30 | Ig 1 | Unknown |
3 | rs181246281 | 35851266 | c.C393T | p.I131I | 1 (0.32%) | 1 (0.04%) | 0.21 | > 0.05 | Ig 1 | Unknown |
8 | rs763233132 | 35849136 | c.G852A | p.P284P | 1 (0.32%) | 0 | 0.11 | > 0.05 | Ig 3 | Unknown |
12 | rs549535993 | 35846153 | c.G1482A | p.S494S | 1 (0.32%) | 0 | 0.11 | > 0.05 | Ig 5 | Unknown |
14 | rs770065180 | 35845519 | c.A1779C | p.P593P | 1 (0.32%) | 0 | 0.11 | > 0.05 | Ig 6 | Unknown |
14 | rs768531638 | 35845531 | c.C1767G | p.G589G | 1 (0.32%) | 0 | 0.11 | > 0.05 | Ig 6 | Unknown |
17 | rs2073901 | 35843583 | c.C2223T | p.T741 T | 47 (15.21%) | 31 (1.24%) | 7.81 × 10−27 | 2.50 × 10−25 | Ig 7 | SRNS [40] |
17 | rs437168 | 35843517 | c.C2289T | p.V763 V | 99 (32.04%) | 304 (12.14%) | 5.02 × 10−15 | 1.61 × 10−13 | Ig 7 | |
26 | rs115670171 | 35831362 | c.G3321A | p.E1107E | 3 (0.97%) | 1 (0.04%) | 4.82 × 10−3 | 0.16 | Cy | Unknown |
26 | rs780661566 | 35831296 | c.G3387A | p.T1129 T | 1 (0.32%) | 0 | 0.11 | > 0.05 | Cy | Unknown |
26 | rs2071327 | 35831368 | c.G3315A | p.S1105S | 261 (84.47%) | 426 (17.01%) | 2.20 × 10−14 | 7.02 × 10−13 | Cy | |
Intron | rs466452 | 35831607 | c.C3286 + 36 T | – | 13 (4.21%) | 536 (21.41%) | 2.20 × 10− 14 | 7.04 × 10− 13 | – | Unknown |
Intron | rs731934 | 35831008 | c. C3481 + 45 T | – | 21 (6.80%) | 425 (16.97%) | 1.71 × 10−14 | 5.48 × 10−13 | – | Unknown |