Table 2. Newly reported hemophilic... | American Society of Hematology

Table 2.

Newly reported hemophilic C-domain missense mutations

Exon	Mutations (no. families)	Factor VIII (% normal)			Phenotype (severity)
Exon	Mutations (no. families)	VIII:C	VIII:Ag	VIII-vWF	Phenotype (severity)
C1 domain
22	Q2087E^†	11	11	1	Mild
22	R2090C^†	14	107	2	Mild
23	R2150C^† (3)	33	30	<1	Mild
23	R2159C (2)	20	104	<1	Mild
23	R2163C	1	1	<1	Moderate
23	M2164R^†	2	2	3	Moderate
C2 domain
24	S2173I^† (3)	16	41	14	Mild
24	A2201P^†	7	36	1	Mild
25	V2232A^†	9	8	2	Mild + *Inh*
26	P2300L (2)	18	18	5	Mild + *Inh*
26	R2304C (3)	2	3	2	Mod + *Inh*
26	R2304G^†	8	3	<1	Moderate
26	R2307Q	10	10	<1	Mild
26	R2320T^†	5	20	100	Moderate

Exon	Mutations (no. families)	Factor VIII (% normal)			Phenotype (severity)
Exon	Mutations (no. families)	VIII:C	VIII:Ag	VIII-vWF	Phenotype (severity)
C1 domain
22	Q2087E^†	11	11	1	Mild
22	R2090C^†	14	107	2	Mild
23	R2150C^† (3)	33	30	<1	Mild
23	R2159C (2)	20	104	<1	Mild
23	R2163C	1	1	<1	Moderate
23	M2164R^†	2	2	3	Moderate
C2 domain
24	S2173I^† (3)	16	41	14	Mild
24	A2201P^†	7	36	1	Mild
25	V2232A^†	9	8	2	Mild + *Inh*
26	P2300L (2)	18	18	5	Mild + *Inh*
26	R2304C (3)	2	3	2	Mod + *Inh*
26	R2304G^†	8	3	<1	Moderate
26	R2307Q	10	10	<1	Mild
26	R2320T^†	5	20	100	Moderate

Bold Ag levels indicate dysfunctional protein; bold vWF levels, bound Ag, where significantly different from total Ag; Inh, high titer inhibitor in at least one of the reported patients with this mutation.

Factor VIII determined in patient plasma as clotting activity (VIII:C), total factor VIII antigen (VIII:Ag), or vWF-bound factor VIII antigen (VIII-vWF) and reported as percentage of clotting reactivity in a pool of normal donor plasmas.

†

Novel mutation, not previously reported in database.15

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