Table 2.
Reported disease-related variants
| Gene | Nucleotide | AA Change | PSa | Related Disease | MAFb (EVS_EA) | dbSNP 137 |
|---|---|---|---|---|---|---|
| C9 | c.460 C>T | p.R154X | — | C9 deficiency50 | 0.0002 | rs144138616 |
| CD46 | c.692 C>G | p.P231R | 6 | aHUS51 | ND | ND |
| CD46 | c.648 G>C | p.W216C | 6 | aHUS51 | ND | ND |
| CD46 | c.565 T>G | p.Y189D | 5 | aHUS52 | ND | ND |
| CFB | c.967 A>C | p.K323Q | 2 | aHUS51 | ND | ND |
| CFH | c.1825 G>A | p.V609I | 1 | aHUS51 | 0.0006 | rs148165372 |
| CFH | c.1873 G>T | p.E625X | — | aHUS51 | 0.0002 | rs150694809 |
| CFH | c.2745 C>A | p.C915X | — | aHUS51 | ND | ND |
| CFH | c.3514 G>T | p.E1172X | — | aHUS53 | ND | rs121913060 |
| CFH | c.3583 G>T | p.E1195X | — | aHUS51 | ND | ND |
| CFH | c.3592 G>A | p.E1198K | 4 | aHUS54 | ND | ND |
| CFH | c.3643 C>G | p.R1215G | 4 | aHUS7 | ND | rs121913051 |
| CFH | c.3644 G>Ac | p.R1215Q | 2 | aHUS55 | ND | ND |
| CFI | c.355 G>A | p.G119R | 3 | aHUS51 | 0.0013 | rs141853578 |
| CFI | c.859 G>A | p.G287R | 5 | aHUS51 | 0.0001 | rs182078921 |
| F12 | c.1681–1 G>A | NA | — | Factor XII deficiency30 | 0.0006 | ND |
| PLG | c.112 A>G | p.K38E | 5 | Plasminogen deficiency26 | 0.0062 | rs73015965 |
| PLG | c.2134 G>A | p.G712R | 3 | Plasminogen deficiency27 | 0.0007 | ND |
| PLG | c.758 G>A | p.R253H | 5 | Plasminogen deficiency28 | 0.0006 | rs143034754 |
| THBD | c.1502 C>T | p.P501L | 3 | aHUS23 | 0.0029 | rs1800579 |
| VWF | c.2561 G>A | p.R854Q | 4 | Von Willebrand disease56 | 0.0056 | rs41276738 |
All variants are heterozygous. AA, African-American; EA, European-American; C9, complement component 9; F12, coagulation factor XII; VWF, Von Willebrand factor; NA, not available; ND, no data.
a
Pathogenicity score (PS) was calculated using PhyloP, SIFT, PolyPhen2, LRT, MutationTaster, and GERP++. The average PS of reported disease-related variants was 3.81.
b
Minor allele frequency (MAF) values in the European-American population are from the Exome Variant Server (EVS). Novel variants are those variants not reported in the EVS, 1000 Genomes, or dbSNP databases.
c
Mutation is carried by two patients.