Table 2. Complement system variants... | American Society of Hematology

Table 2.

Complement system variants found in the study cohorts

	PF-specific variants	US-specific variants	Shared variants	Total PF-associated variants	Total US-associated variants
Total unique variants	64	63	20	84	83
Neutral	16	19	10	26	29
Missense	43	52	16	59	68
Missense^F	26	33	6	32	39
HP LoF	22	11	4	26	15
ΔP variants	48	44	10	58	54
Humoral variants	48	42	17	65	59
Neutral	13	15	9	22	24
Missense	30	36	14	44	50
Missense^F	16	19	5	21	24
HP LoF	19	8	3	22	11
ΔP variants	35	27	8	43	35
Opsonophagocytic variants	16	21	3	19	24
Neutral	3	4	1	4	5
Missense	13	18	2	15	20
Missense^F	10	14	1	11	15
HP LoF	3	3	1	4	4
ΔP variants	13	17	2	15	19

	PF-specific variants	US-specific variants	Shared variants	Total PF-associated variants	Total US-associated variants
Total unique variants	64	63	20	84	83
Neutral	16	19	10	26	29
Missense	43	52	16	59	68
Missense^F	26	33	6	32	39
HP LoF	22	11	4	26	15
ΔP variants	48	44	10	58	54
Humoral variants	48	42	17	65	59
Neutral	13	15	9	22	24
Missense	30	36	14	44	50
Missense^F	16	19	5	21	24
HP LoF	19	8	3	22	11
ΔP variants	35	27	8	43	35
Opsonophagocytic variants	16	21	3	19	24
Neutral	3	4	1	4	5
Missense	13	18	2	15	20
Missense^F	10	14	1	11	15
HP LoF	3	3	1	4	4
ΔP variants	13	17	2	15	19

The number and types of rare unique complement system variants identified in the PF cohort (PF) (N = 37) and the NHLBI ARDSnet iSPAAR unselected sepsis (US) cohort (N = 87).

ΔP variants = Missense^F + HP LoF.

HP LoF, high-precision prediction LoF (stop gained, stop lost, essential splice site, frameshift, and in-frame indel); Missense^F, missense variants predicted in silico to cause altered protein function.

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