Table 4. IF gene mutations in... | American Society of Hematology

Table 4.

IF gene mutations in non-Stx–HUS patients from our registry

Exon/intron, subject/family code	Mutation	Effect	Subgroups	Inheritance	IF serum levels, %*
Ex V
S211 117	719C > G	A240G	Sporadic	Heterozygote	98
Ex IX
F215 010	949C > T	R317W	Familial	Heterozygote	ND
F216 010	949C > T	R317W	Familial	Heterozygote	98
Ex XII
S199 192†	(1446-1450)delTTCAC	L484V + Q485G + W486Stop	Sporadic	Heterozygote	77
Int 12
S214 150	1534 + 5G > T	Splice score decrease from 93 to 86	Sporadic	Heterozygote	103
Ex XIII
F118 034	1555G > A	D519N	Familial	Heterozygote	ND
F119 034	1555G > A	D519N	Familial	Heterozygote	ND

Exon/intron, subject/family code	Mutation	Effect	Subgroups	Inheritance	IF serum levels, %*
Ex V
S211 117	719C > G	A240G	Sporadic	Heterozygote	98
Ex IX
F215 010	949C > T	R317W	Familial	Heterozygote	ND
F216 010	949C > T	R317W	Familial	Heterozygote	98
Ex XII
S199 192†	(1446-1450)delTTCAC	L484V + Q485G + W486Stop	Sporadic	Heterozygote	77
Int 12
S214 150	1534 + 5G > T	Splice score decrease from 93 to 86	Sporadic	Heterozygote	103
Ex XIII
F118 034	1555G > A	D519N	Familial	Heterozygote	ND
F119 034	1555G > A	D519N	Familial	Heterozygote	ND

ND indicates not done.

IF serum levels were measured by ELISA assay as described by Fremeaux-Bacchi et al¹⁸ (normal range, 70%-130%).

Patient carrying both MCP and IF mutations.