Table 5

Reported factor H gene mutations; summary of literature reports

Case	Mutation (cDNA nucleotide)	Exon	Consequence (amino acid)	SCR	C3	Factor H	Family	Reference
Homozygous; mutations on the same allele; **other chromosome, n.r., not reported; nap, note added in proof of this publication.
Cases with one mutation
I	155–158 del 4 bp	2	Premature Stop	1	Low	Low	Sporadic	¹⁶ Case
II	1494 del A	11	Frameshift	8	Low	Normal	2 patients and 1 unaffected brother	²³ Fam 3
III	2940 C/T	19	956 Thr→Met	16	Normal	High	Mother carrier without HUS	²⁴ HUS 12
IV	3429 A/G	22	1119 Asp→Gly	19	Normal	Normal	Sibling HUS	²⁸ Case 2
V	3620 T/C	23	1183 Trp→Arg	20	Normal	Normal	Brother with aHUS	³⁵ Case rep
VI	3621 G/T	23	1183 Trp→Leu	20	Low	High	n.r.	²⁴, ³⁵ HUS 2
VII	3624 C/G	23	1184 Thr→Arg	20	Low	Normal	Sporadic	²⁸ Case 4
VIII	3639 T/G	23	1189 Leu→ Arg	20	Normal	High	Father mutation negative	²⁴ HUS 11
IX	3654 G/A	23	1194 Gly→Asp	20	n.r.	n.r.	n.r.	³⁶
X	3663 T/C	23	1197 Val→Ala	20	Low	Low	Sporadic	²³ nap
XI	3701 C/T	23	1210 Arg→Cys	20	Normal.	Normal	Father and 2/5 siblings carriers, no HUS	²³ R 16
XII	3701 C/T	23	1210 Arg→Cys	20	Low	Normal/High	Siblings with HUS, father carrier	²³ Fam 24
XIII	3701 C/T	23	1210 Arg→Cys	20	Low.	Normal	5 other (healthy) carriers including sister and father	²⁹
XIV	3716 C/G	23	1215 Arg to Gly	20	Normal	Normal	Sporadic	⁶, ²⁸ Case 3
XV	3717 C/A	23	1215 Arg→Gln	20	Low	Normal	Carriers: father and grandfather	²³ Fam 1
XVI	del 24 bp*	23	Premature Stop	20	Low	Low	Autosomal recessive	²³ Fam 29
Cases with two mutations
XVII	3299 C/G and	21	1076 Gln→Glu	18	n.r.	n.r.	Sporadic	²⁸ Case 1
	3559 del A	22	Frame shift	19
XVIII	3645 C/T** and	23	1191 Ser→Leu	20	n.r.	n.r.	Mother HUS	²⁸ Case 5
	3663 T/C**	23	1197 Val→Ala	20
XIX	3663 T/C* and	23	1197 Val→Ala	20	Low	Low	n.r.	²⁴ HUS 3
Partial deletion***