Table 2.

MASP2 single nucleotide polymorphisms associated with protein levels and function (Boldt et al., 2011a, Boldt et al., 2011b, Boldt et al., 2013a, Boldt et al., 2013b, Thiel et al., 2007, Thiel et al., 2009).

dbSNP	Gene region	HGVS name	Reference: NP_006601.2	Protein domain	Protein levelsa	Protein functiona	MAF (%) 1000 genomes project (all populations)
rs7548659	Promoter	1:g.11047382G>T	n.a.	n.a.	Variable	n.a.	38
rs61735600	Exon 3	1:g.11046672C>T	p.R99Q	CUB1	≥600 ng/mL	Normal	2
rs72550870	Exon 3	1:g.11046609T>C	p.D120G	CUB1	≤200 ng/mL	Cannot bind MBL, cannot activate C4	2
rs56392418	Exon 3	1:g.11046591G>A	p.P126L	CUB1	≤200 ng/mL	Normal	3
rs2273343	Exon 4	1:g.11045488T>C	p. H155R	EGF	<200 ng/mL	Normal	1
–	Exon 4	c.466_477dupTGCCACAACCAC @	p. CHNHdup	EGF	<200 ng/mL	Cannot bind MBL, cannot induce C4 fragment deposition	0.26@
rs2273344	Intron 4	1:g.11045065C>T	n.a.	n.a.	≥600 ng/mL	n.a.	15
rs9430347	Intron 5	1:g.11044788T>C	n.a.	n.a.	≥600 ng/mL	n.a.	15
rs17409276	Intron 9	1:g.11031148G>A	n.a.	n.a.	≥600 ng/mL	n.a.	15
rs12711521	Exon 10	1:g.11030859C>A	p.D371Y	CCP2	Variable	Normal	37
rs2273346	Exon 10	1:g.11030840A>G	p.V377A	CCP2	≤200 ng/mL	Normal	9
rs12085877	Exon 12	1:g.11027630C>T	p.R439H	SP	≤200 ng/mL	Binds MBL but does not autoactivate, cannot activate C4	2
rs1782455	Exon 12	1:g.11027467G>A	p.S493=	SP	Variable	n.a. (synonymous)	29

n.a.: not applicable. CUB1: Complement C1r/C1s, Uegf, Bmp1; CCP: Complement Control Protein; EGF: Epidermal Growth Factor; dbSNP: Single Nucleotide Polymorphism Database; HGVS: Human Genome Variation Society (allele name available in http://www.ensembl.org); MAF: minor allele frequency; MBL: mannose (or mannan)-binding lectin; @ Reference: NM_006610, only in Chinese of Hong Kong (Thiel et al., 2007).

^aAssociated with the minor allele.