Table 2. MCP gene mutations in... | American Society of Hematology

Table 2.

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

Exon/intron, subject/family code	Mutation	SCR	Effect	Subgroups	Inheritance	Unaffected carriers	Origin of the mutation
Int 1							See Figure 3
F166 099	IVS1-1G > C	NA	C1Stop	Familial	Homozygote	4/5
F167 099	IVS1-1G > C	NA	C1Stop	Familial	Homozygote	4/5
F168 099	IVS1-1G > C	NA	C1Stop	Familial	Heterozygote	4/5
S222 212	IVS1-1G > C	NA	C1Stop	Sporadic	Heterozygote	ND
Ex II
S202 048	218C > T	1	R25Stop	Sporadic	Heterozygote	ND	Unknown
S019 085	218C > T	1	R25Stop	Sporadic	Heterozygote	ND	Unknown
S044 146	218C > T	1	R25Stop	Sporadic	Heterozygote	ND	Unknown
F106 024*	218C > T	1	R25Stop	Familial	Heterozygote	1/3	Paternal
F108 024*	218C > T	1	R25Stop	Familial	Heterozygote	1/3	Paternal
D9 024*	218C > T	1	R25Stop	Familial	Heterozygote	1/3	Paternal
F106 024	147G > A	1	C1Y	Familial	Heterozygote	1/3	Maternal
F108 024	147G > A	1	C1Y	Familial	Heterozygote	1/3	Maternal
D9 024	147G > A	1	C1Y	Familial	Heterozygote	1/3	Maternal
S203 188	147G > A	1	C1Y	Sporadic	Heterozygote	ND	Unknown
S204 202	235T > C + (236-241)delA	1 + 2	39 aa change + L72Stop	Sporadic	Heterozygote	1/2	Unknown
Ex III
S207 199	338T > C	2	C65R	Sporadic	Heterozygote	2/3	Paternal
Int 2
S199 192†	IVS2-2A > G	2	(62-95)del + G96I + Y97I + Y98T + L99Stop	Sporadic	Heterozygote	ND	Unknown
Ex VI
F164 088‡	843-844delAC	4	T233fsStop236	Familial	Heterozygote	2/3	Paternal
F165 088‡	843-844delAC	4	T233fsStop236	Familial	Heterozygote	2/3	Paternal
S045 169	858-872del15bp + 875C > T	4	238-242del + D243N + P244S	Sporadic	Heterozygote	ND	Unknown
F169 130*	768T > G	4	F208C	Familial	Heterozygote	5/19	Maternal
F170 130*	768T > G	4	F208C	Familial	Heterozygote	5/19	Maternal
Ex XI
S050 172	1056C > T	NA	A304V	Sporadic	Heterozygote	ND	Unknown

Exon/intron, subject/family code	Mutation	SCR	Effect	Subgroups	Inheritance	Unaffected carriers	Origin of the mutation
Int 1							See Figure 3
F166 099	IVS1-1G > C	NA	C1Stop	Familial	Homozygote	4/5
F167 099	IVS1-1G > C	NA	C1Stop	Familial	Homozygote	4/5
F168 099	IVS1-1G > C	NA	C1Stop	Familial	Heterozygote	4/5
S222 212	IVS1-1G > C	NA	C1Stop	Sporadic	Heterozygote	ND
Ex II
S202 048	218C > T	1	R25Stop	Sporadic	Heterozygote	ND	Unknown
S019 085	218C > T	1	R25Stop	Sporadic	Heterozygote	ND	Unknown
S044 146	218C > T	1	R25Stop	Sporadic	Heterozygote	ND	Unknown
F106 024*	218C > T	1	R25Stop	Familial	Heterozygote	1/3	Paternal
F108 024*	218C > T	1	R25Stop	Familial	Heterozygote	1/3	Paternal
D9 024*	218C > T	1	R25Stop	Familial	Heterozygote	1/3	Paternal
F106 024	147G > A	1	C1Y	Familial	Heterozygote	1/3	Maternal
F108 024	147G > A	1	C1Y	Familial	Heterozygote	1/3	Maternal
D9 024	147G > A	1	C1Y	Familial	Heterozygote	1/3	Maternal
S203 188	147G > A	1	C1Y	Sporadic	Heterozygote	ND	Unknown
S204 202	235T > C + (236-241)delA	1 + 2	39 aa change + L72Stop	Sporadic	Heterozygote	1/2	Unknown
Ex III
S207 199	338T > C	2	C65R	Sporadic	Heterozygote	2/3	Paternal
Int 2
S199 192†	IVS2-2A > G	2	(62-95)del + G96I + Y97I + Y98T + L99Stop	Sporadic	Heterozygote	ND	Unknown
Ex VI
F164 088‡	843-844delAC	4	T233fsStop236	Familial	Heterozygote	2/3	Paternal
F165 088‡	843-844delAC	4	T233fsStop236	Familial	Heterozygote	2/3	Paternal
S045 169	858-872del15bp + 875C > T	4	238-242del + D243N + P244S	Sporadic	Heterozygote	ND	Unknown
F169 130*	768T > G	4	F208C	Familial	Heterozygote	5/19	Maternal
F170 130*	768T > G	4	F208C	Familial	Heterozygote	5/19	Maternal
Ex XI
S050 172	1056C > T	NA	A304V	Sporadic	Heterozygote	ND	Unknown

NA indicates not applicable; ND, not done; aa, amino acid.

Patients carrying both MCP and CFH mutations.

†

Patient carrying both MCP and IF mutations.

‡

See Noris et al.¹⁹

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