Table 2. Variants of uncertain significance in complement and coagulation genes predicted to not be deleterious by some or all prediction methods.
Gene | Patient | AA change | Nucleotide | dbSNP ID | In-silico prediction |
---|---|---|---|---|---|
C1S | 14 | p.K210T | c.629 A>C | rs782009231 | Mixed |
C2 | 15 | p.N310S | c.929 A>G | rs144201432 | All predict benign |
C2 | 16 | p.P724L | c.2171C>T | rs145050210 | All predict benign |
C3 | 17 | p.K155Q | c.463 A>C | rs147859257 | All predict benign |
C3AR1 | 18 | p.S308A | c.922 T>G | rs757235303 | All predict benign |
C8A | 19 | p.R485L | c.1454_1455delGCinsTT | rs386631447 | Mixed |
C8A | 15 | p.D129N | c.385G>A | rs150404785 | Mixed |
C9 | 20 | p.D80N | c.238G>A | rs115196369 | All predict benign |
CD46 | 21 | p.R82W | c.244C>T | rs200133631 | Mixed |
CFB | 22 | p.I242L | c.724 A>C | rs144812066 | Mixed |
CFB | 17 | p.S284N | c.851G>A | rs756948669 | All predict benign |
CFH | 17 | p.Q950H | c.2850G>T | rs149474608 | Mixed |
CFH | 23 | p.R166L | c.497G>T | None | Mixed |
CFH | 24 | Splice site | c.3134-5 T>A | rs513699 | Mixed |
CFH | 25 | p.P43T | c.127C>A | rs764941928 | All predict benign |
CFH | 26 | p.T956M | c.2687C>T | rs145975787 | All predict benign |
CFHR4 | 27 | p.Y362H | c.1084 T>C | rs201636212 | Mixed |
CFHR4 | 28 | p.W233C | c.699G>C | rs116119247 | Mixed |
CFHR4 | 29 | p.Y35H | c.103 T>C | rs138792300 | Mixed |
CFHR4 | 4 | p.L561I | c.1681C>A | rs80010185 | All predict benign |
CFHR5 | 30 | p.C568Ter | c.1704 T>A | rs143140599 | Mixed |
CFHR5 | 31 | p.G471E | c.1412G>A | rs144438200 | Mixed |
CFI | 32 | p.K267E | c.799 A>G | rs75612300 | Mixed |
CFI | 33 | p.I416L | c.1246 A>C | rs61733901 | Mixed |
CFI | 34 | p.H183R | c.548 A>G | rs75612300 | Mixed |
CR2 | 20 | p.V946M | c.2836G>A | rs147451324 | Mixed |
CR2 | 35 | p.R428H | c.1283G>A | rs183067414 | Mixed |
CR2 | 36 | Splice site | c.2903-3C>A | rs372214909 | All predict benign |
CR2 | 37 | p.S1016L | c.3047C>T | rs138062179 | All predict benign |
MASP1 | 2 | p.R288Q | c.863G>A | rs116001173 | Mixed |
MASP1 | 38 | p.R441H | c.1322G>A | rs141872329 | Mixed |
PLG | 39 | p.T742N | c.2225C>A | None | Mixed |
PLG | 40 | Splice site | c.407+8 A>G | None | All predict benign |
PLG | 22 | p.D258N | c.772G>A | rs138242513 | All predict benign |