Table 4 Exonic variants in CFHR2 identified by next-generation sequencing of 77 healthy donors.
From: Factor H-related 2 levels dictate FHR dimer composition
CFHR2 exonic variant identified | Chr:bp | Major/minor allele | MAF | Location (aa change) | n of 77 | FHR-2 µg/mL (Mean, SD) |
|---|---|---|---|---|---|---|
Single variants | ||||||
 rs79351096 | 1:196,949,611 | G/A | 0.015 | p.Cys72Tyr (CCP1) | 3 (Het.) | 2.07 (0.16) |
 rs4085749 | 1:196,951,018 | C/T | 0.325 | Splice variant (CCP2) | 19 (Het.) | 2.59 (0.64) |
16 (Hom.) | 1.11 (0.22) | |||||
 rs41257904 | 1:196,958,055 | G/T | 0.03 | p.Glu199Ter (CCP3) | 4 (Het.) | 2.10 (0.57) |
 rs41310132 | 1:196,959,058 | A/G | 0.012 | p.Tyr264Cys (CCP4) | 2 (Het.) | 1.69 (0.19) |
Combined variants | ||||||
 rs79351096 & rs41257904 | - | - | - | p.Cys72Tyr & p.Glu199Tera | 2 (Het. & Het.) | Not detectable |
 rs79351096 & rs4085749 | - | - | - | p.Cys72Tyr & splice variant | 2 (Het. & Het.) | 0.60 (0.17) |
 rs41310132 & rs4085749 | - | - | - | p.Tyr264Cys & splice variant | 1 (Het. & Hom.) | 0.48 |
No variant identified | - | - | - | - | 28 | 4.28 (0.83) |
