Table 5.

Mutations in MCP Reported in aHUS and Functional Consequences

Mutation	Domain	Expression	C3b Binding	C3 Cofactor Activity	C4b Binding	C4b Cofactor Activity	Reference
IVS2+1G>C	1	↓	N/A	N/A	N/A	N/A	48, 80
IVS2+2T>G	1	↓	N/A	N/A	N/A	N/A	11, 43, 44, 47, 48
IVS1-1G>C	1	↓	N/A	N/A	N/A	N/A	40, 48
Y29X	1	N/D	N/D	N/D	N/D	N/D	46
C35X	1	↓	N/A	N/A	N/A	N/A	51
C35Y	1	↓	N/A	N/A	N/A	N/A	40, 48, 51
E36X	1	↓	N/A	N/A	N/A	N/A	49
P50T	1	N/D	N/D	N/D	N/D	N/D	51
R59X	1	↓	N/A	N/A	N/A	N/A	40, 44, 47, 51
C64F	1	↓	N/A	N/A	N/A	N/A	168
K65DfsX73	1	N/D	N/D	N/D	N/D	N/D	46
IVS2-2A>G	2	↓	N/A	N/A	N/A	N/A	11, 40, 47, 48, 107, 170
C99R	2	↓	N/A	N/A	N/A	N/A	40, 48
R103W	2	↔	↔	↔*	↔	↔	48, 216
R103Q	2	N/D	N/D	N/D	N/D	N/D	46
G130V	2	N/D	N/D	N/D	N/D	N/D	46
G135VfsX13	2	N/D	N/D	N/D	N/D	N/D	44
P165S	3	↓	N/A	N/A	N/A	N/A	46, 48, 80
E179Q	3	↑	↔	↔	↔	↓	47, 48
Y189D	3	↓	N/A	N/A	N/A	N/A	9, 11, 47, 48, 49, 51
D185N/Y189D	3	↓	N/A	N/A	N/A	N/A	47, 48
I208Y	3	N/A	N/A	N/A	N/A	N/A	46
G196R	3	↓	N/A	N/A	N/A	N/A	48
G204R	3	N/D	N/D	N/D	N/D	N/D	46
C210F	3	↓	N/A	N/A	N/A	N/A	46, 92
W216C	3	N/D	N/D	N/D	N/D	N/D	11
P231R	4	N/D	N/D	N/D	N/D	N/D	11
S240P	4	↔	↓	↓	↔	↔	45, 48
F242C	4	↔	↓	↓	↓	↓	11, 46, 48, 51
Y248X	4	↓	N/A	N/A	N/A	N/A	47, 48
T267fs270x	4	↓	N/A	N/A	N/A	N/A	48, 51, 217
Del D271-Ser272	4	↓	N/A	N/A	N/A	N/A	43, 45, 63
858-872del+D277N+P278S	4	↓	N/A	N/A	N/A	N/A	40, 48
C852-856del	4	↓	N/A	N/A	N/A	N/A	48, 80
c.983-984delAT	TM	N/D	N/A	N/A	N/A	N/A	11
A353V	TM	↔	↔*	↔	↔	↔	40, 48, 216
IVS10+2T>C	TM	↓	N/A	N/A	N/A	N/A	49, 218
T381I	CT	N/D	N/D	N/D	N/D	N/D	46

NOTE. The amino acid numbering refers to the translation start site.

Abbreviations: CT, cytoplasmic tail; N/A, not applicable; N/D, not done; TM, transmembrane.

^⁎Inability to control complement was detected on cell surface assays only.