Table 1.

Structural and functional consequences of mutations in aHUS

Mutant	CCP	Structural changes	C3b/d binding	Heparin binding	Endothelial cell binding	Hemolysis assay	Reference
D1119G	19	Local	↓e	↔	↔a	↓c	[19, 86]
Y1142C	19	ND	ND	ND	ND	↓d	[21]
W1157R	19	ND	↓	↓	ND	ND	[87]
E1172X	20	ND	↓	↓	ND	ND	[88, 89]
R1182S	20	Local	↓	↓	ND	↓c,d	[19, 20]
W1183R	20	Local	↑	↑	ND	↓c	[19]
W1183L	20	Local	↓	↓e	↓a,b,e	↓c	[19, 86, 87, 90]
T1184R	20	Local	↑e	↑	↑a	↓c	[19, 86]
L1189R	20	Local	↑	↑	↑a	↓c,d	[19, 20, 86]
L1189F	20	Local	↑	↑	ND	↓c,d	[19, 20]
S1191W	20	ND	ND	ND	ND	↓d	[20]
S1191L	20	Local	↑e	↔	ND	↓c,d	[17, 19]
S1191L/V1197A	20	Local	↑e	↔	ND	↓c,d	[17, 19]
V1197A	20	ND	↓e	↓e	ND	↓d	[17, 20, 87, 90]
E1198K	20	ND	ND	ND	↓b	↓d	[22]
R1210C	20	Local	↓	↓e	↓b	↓c	[19, 20, 87, 89, 90]
R1215G	20	Local	↓	↓	↓b	↓c	[19, 87, 89]
R1215Q	20	ND	↔	↓	↔a	ND	[86]
P1226S	20	ND	↓	↓	ND	ND	[87]

ND not done; Endothelial cell binding relates to either ^amGEnC-1 [86] or ^bHUVEC [22, 88, 89] binding. Hemolysis assay using ^crecombinant proteins to compete with full-length CFH on human erythrocytes [19] or ^dusing patient serum on sheep erythrocytes [20]. To amalgamate these different hemolysis assays, the arrows indicate the effect on cell surface complement regulation produced by the mutation. ^eIndicates contradictory results