Table 4.

Characteristics of complement gene variants identified in patients with pregnancy-associated hemolytic uremic syndrome

PatientGeneVariation ClassificationAmino Acid ChangeaPopulation FrequencybProtein LevelProtein FunctionReferences
1CFHPathogenicp. Arg1215GlyNovel(26,27)
2C3Pathogenicp.Arg592Gln0.000008241(28)
3MCPPathogenicp.Met44Leu0.0004454N/A
4CFHPathogenicp.Arg1210C0.0001730(26,27,29)
5CFHPathogenicp.Thr645ArgfsX20NovelN/A
6CFHPathogenicp.Trp71NovelN/A
7CFHPathogenicc.3468dupANovelN/A(30)
CFIVUSPro553Ser0.000008243N/A(10,31)
8CFHPathogenicp.Ser1191LeuNovel(26,32)
9CFHPathogenicp.Val1197AlaNovel(29,32,33)
10CFHPathogenicp.Arg1215×N/A
11CFHPathogenicCFH/CFHR3 hybridNovel(34)
12CFHPathogenicc.3486delAN/A
13CFIPathogenicp.W145×NovelN/A(35)
14CFIPathogenicp.Ile416Leu0.001113N/A(6,10,36,37)
15CFIVUSp.Ile578Thr0.00002477N/A(10)
16CFHPathogenicp.G1194D0.00003295N/AN/A(38)
MCPPathogenicp.F242CNovelN/A(39,40)
17CFIPathogenicp.A240G0.0002720N/A(7,31,36)
18CFHVUSp.P279LNovelN/AN/A
19THBDVUSp.D163NNovelN/AN/A
20CFHPathogenicK474Nfs6×
21MCPPathogenicIVS2+2T>G0.00003311N/A(41)
MCPPathogenicp.Y189DNovelN/A(41)
CFIVUSp.D44N0.00001648
22CFIVUSp.D519N0.00001658(42)
23CFHVUSp.N516K0.0004046
24CFHPathogenicp.R78GNovel(38,43)
25CFHVUSp.R303Q0.00001650
26C3Pathogenicp.Arg161Trp0.000008240(6,44)
27C3VUSp.Ile1095SerNovelNANA(6)
28CFHPathogenicp.Arg53Cys0.00001652(45)
29CFHPathogenicp.Ala161Ser0.00004124N/AN/A
30CFHPathogenicp.Gly397ArgNovelN/AN/A
31CFHPathogenicp.Cys431Tyr0.000008262N/AN/A
32CFHPathogenicp.His893ArgNovelN/AN/A
33CFHPathogenicp.Val1197Ala (Hom)Novel(29,32,46)
34CFHPathogenicp.Val1197AlaNovel(1315,18,19)
35CFHPathogenicp.Arg1210Cys0.0001730 (26,27,29,47,48)
MCPPathogenicp.Tyr29StopNovelN/A
36CFHPathogenicp.Gln81ProNovelN/AN/A
37CFHVUSp.Lys1186ThrNovelN/AN/A
CFIVUSp.Ile340Thr0.00004120(42)
38C3Pathogenicp.Lys155Gln0.003362N/AN/A
CFHPathogenicp.Lys584StopNovelN/AN/A
39C3Pathogenicp.Arg161Trp0.000008240(6,44)
CFHVUSp.Arg341His0.00001653N/AN/A
40CFHPathogenicp.Cys864SerNovelN/AN/A
THBDPathogenicp.Ala43Thr0.003430N/AN/A
41CFIPathogenicp.Arg474Stop0.00004956N/A(6,36,49)
42CFIPathogenicp.Gly119Arg0.0005290N/A(6,31,36)
43CFHPathogenicp.Gly218GluNovelN/A(6,7)
44CFIPathogenicp.Gly119Arg0.0005290N/A(6,31,36)
CFIVUSp.Gly424AspNovelN/A(36)
45MCPPathogenicIVS3+2T>G0.00003121N/AN/A
46MCPPathogenicp.Tyr248StopNovelN/A
47CFHVUSp.Lys82Arg;0.00001649N/AN/A
48CFHPathogenicp.Tyr1016 (Hom)0.000008239N/A
49CFHPathogenicp.Arg161Trp0.000008240(6,44,50)
  • CFH, complement factor H; ↔, unchanged; ↓, decreased; MCP, membrane cofactor protein; N/A, not available; CFI, complement factor I; VUS, variant of undetermined significance; Hom, homozygous; THBD, thrombomodulin.

  • a All heterozygous unless specified.

  • b From the Exome Aggregation Consortium (ExAc) database (http://exac.broadinstitute.org/).