MASP1 and MASP2

Table 2 MASP2 gene polymorphisms associated with MASP-2 and MAp19 serum levels

dbSNP	Allele	Gene region	Amino acid position	Protein region	Global MAF	Serum levels^a	Reference
rs7548659	G>T	Promoter	n.a.	n.a.	43%	High MASP-2 and low MAp19 concentration	Boldt et al. 2013
rs61735600	C>T	Exon 3	p.R99Q	CUB1	2%	High MASP-2 concentration	Thiel et al. 2007
rs72550870	T>C	Exon 3	p.D120G	CUB1	1%	Low MASP-2 and MAp19 concentration	Sørensen et al. 2005, Thiel 2007, Kristian Stengaard-Pedersen et al. 2003, Boldt et al. 2013
rs56392418	C>T	Exon 3	p.P126L	CUB1	4%	Low MASP-2 concentration	Thiel et al. 2009
-	c.466_477dupTGCCACAACCAC	Exon 4	p. 156_159dupCHNH	EGF	0.26%	Low MASP-2 concentration	Thiel et al. 2007, 2009
rs2273343	T>C	Exon 4	p.H155R	EGF	1%	Low MASP-2 concentration	Thiel et al. 2009
rs2273344	C>T	Intron 4	n.a.	n.a.	16%	High MASP-2 and low MAp19 concentration	Boldt et al. 2013
rs9430347	G>A	Intron 5	n.a.	n.a.	15%	High MASP-2 and low MAp19 concentration	Boldt et al. 2013
rs17409276	G>A	Intron 9	n.a.	n.a.	16%	High MASP-2 and low MAp19 concentration	Boldt et al. 2013
rs12711521	C>A	Exon 10	p.D371Y	CCP2	42%	High MASP-2 and low MAp19 concentration	Boldt et al. 2013
rs2273346	A>G	Exon 10	p.V377A	CCP2	12%	Low MASP-2 concentration	Thiel et al. 2007, 2009
rs12085877	G>A	Exon 12	p.R439H	SP	3%	Low MASP-2 concentration	Thiel et al. 2009
rs1782455	G>A	Exon 12	p.S493=	SP	31%	High MASP-2 and low MAp19 concentration	Boldt et al. 2013

dbSNP single nucleotide polymorphism database, n.a not applicable, Global MAF minor allele frequency of 1000 genomes project in all populations, CCP complement control protein, SP serine protease, EGF epidermal growth factor
^aHomozygote of the minor allele effect
SNPs in bold are considered expression quantitative trait loci (eQTLs) by influencing the expression level of mRNA (http://www.gtexportal.org/home/eqtls/byGene?geneId=MASP2&tissueName=All)