Table 3.
Predicted deleterious nsRVs
| Gene | Nucleotide | AA Change | PSa | MAFb (EVS_EA) | dbSNP 137 |
|---|---|---|---|---|---|
| Reported | |||||
| C1Sc | c.943 G>A | p.D315N | 6 | 0.0053 | rs117907409 |
| C3 | c.4855 A>C | p.S1619R | 4 | 0.0028 | rs2230210 |
| C3AR1 | c.356_357insG | p.D119fs | — | 0.0004 | ND |
| C8A | c.1331 G>A | p.R444H | 6 | 0.0050 | rs143908758 |
| CFHR5c | c.832 G>A | p.G278S | 4 | 0.0088 | rs139017763 |
| CR2 | c.524 C>T | p.P175L | 4 | 0.0074 | rs75282758 |
| FCN1 | c.866 A>G | p.N289S | 4 | 0.0016 | rs138055828 |
| MASP2 | c.467 G>A | p.C156Y | 6 | 0.0097 | rs41307788 |
| PHB | c.128 G>T | p.R43L | 4 | 0.0088 | rs2233665 |
| PLG | c.505 C>T | p.P169S | 4 | 0.0004 | rs143256245 |
| Novel | |||||
| C2 | c.443_453del | p.148_151del | — | ||
| C3 | c.3085 G>A | p.D1029N | 6 | ||
| CFH | c.595 A>G | p.S199G | 4 | ||
| CFH | c.1160–2 A>G | — | — | ||
| CR1 | c.4750 C>T | p.R1584W | 4 | ||
| MASP1 | c.1770delG | p.G590fs | — | ||
| MASP2 | c.1633 A>G | p.N545D | 4 | ||
| VWF | c.4165 G>Cd | p.E1389Q | 4 |
All variants are heterozygous. AA, African-American; EA, European-American; C1S, complement component 1 s subcomponent; C3AR1, complement component 3a receptor 1; C8A, complement component 8 alpha polypeptide; CR2, complement component receptor 2; FCN1, ficolin 1; PHB, prohibitin; C2, complement component 2; CR1, complement receptor 1; ND, no data.
Pathogenicity score (PS) was calculated using PhyloP, SIFT, PolyPhen2, LRT, MutationTaster, and GERP++. The mean PS of predicted deleterious missense nsSNVs was 4.57.
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, and dbSNP databases.
Mutation is carried by two patients.
Mutation (c.4165 G>A) in VWF causing Von Willebrand disease was found at the same position (21094983) but leads to a different alteration in the amino acid sequence (p.E1389K versus p.E1389Q).