Gene | Protein location | Functional impact | Mutation frequency in aHUS (percent) | Recurrence frequency after transplantation (percent) |
Mutation | ||||
CFH | Plasma | Loss | 20-30 | 75-90 |
CFI | Plasma | Loss | 2-12 | 45-80 |
CFB | Plasma | Gain | 1-2 | 100 |
C3 | Plasma | Gain | 5-10 | 40-70 |
MCP | Membrane | Loss | 10-15 | 15-20 |
THBD | Membrane | Loss | 5 | 1 case |
Genetic polymorphism (frequency in control populations) | ||||
Homozygous CFHR1del (3 to 8 percent) | Circulating | Undetermined | 14-23 (>90 percent in patients with anti-CFH antibodies) | NA |
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