Table 1.

Sequence variants in PLA2R1 observed in the present study (95 patients with iMN)

Chr	Position	Name	Ref	All	CEU AF	AF Patients	P Value	Ref cDNA	cDNA	Prot Level	Effect	Exon	Observations
2a	160803929	rs181959329	C	C/T	0	0.005		G	c.3850+1G>A		Ess	26	Donor ss
2	160808075	rs3828323b	C	C/T	0.511	0.382	0.0016	G	c.3316G>A	p.Gly1106Ser	Missense	24	Linker region between CTLD6 and CTLD7
2	160808076	rs72954858	G	G/A	0.012	0.027	0.13	C	c.3315C>T	p.His1105=	Synonymous	24	Linker region between CTLD6 and CTLD7
2	160833188	rs2715918b	A	A/G	0.821	0.716	0.0013	T	c.2437+8T>C		Intron	16
2c	160840562	Novel	A	A/G	0d	0.005		T	c.2060T>C	p.Leu687Pro	Missense	13	CTLD4
2a	160840584	rs149133741	C	A/C	0.005	0.011		G	c.2038G>T	p.Val680Leu	Missense	13	CTLD4
2a	160862197	rs149960520	C	C/T	0d	0.005		G	c.1800G>A	p.Pro600=	Synonymous	11	CTLD3
2a	160873180	rs140427239	T	C/T	0	0.005		A	c.1496A>G	p.Tyr499Cys	Missense	9	CTLD2 2 aa from C4
2	160879259	rs33985939	C	C/T	0.094	0.041	0.02	G	c.1211G>A	p.Arg404His	Missense	7	CTLD2 1 aa from C1
2c	160879310	Novel	C	C/T	0d	0.005		G	c.1160G>A	p.Arg387His	Missense	7	CTLD2
2a	160879311	rs150221555	G	A/G	0d	0.006		C	c.1159C>T	p.Arg387Cys	Missense	7	CTLD2
2	160885418	rs35771982b	G	G/C	0.480	0.296	0.0000057	C	c.898C>G	p.His300Asp	Missense	5	CTLD1
2	160885442	rs3749117b	T	T/C	0.485	0.296	0.0000031	A	c.874A>G	p.Met292Val	Missense	5	WMGL motif of CTLD1
2a	160889495	rs149256089	A	A/G	0.001d	0.005		T	c.816T>C	p.Asp272=	Synonymous	4	CTLD1
2a	160898605	rs141800672	C	A/C	0d	0.005		G	c.598G>T	p.Asp200Tyr	Missense	2	FNII
2	160901517	rs4665143b	A	A/G	0.629	0.454	0.000021	T	c.261T>C	p.Ser87=	Synonymous	2	CRD
2	160918984	rs925409	T	T/A	0.074	0.080	0.78	A	c.-70A>T		5′-UTR	1
2	160919020	rs3749119b	C	C/T	0.339	0.186	0.000049	G	c.-106G>A		5′-UTR	1

Chr, chromosome; position, base pair position based on University of California, Santa Cruz, genome browser version human (February 2009) (GRCh37/hg19) assembly NC_000002.11; name, rs identifier; ref, genomic reference allele; all, alleles; CEU AF, variation allele frequencies white population from 1000 Genomes release 10 (March 2012); AF patients, patient variation allele frequencies; P value, comparison of variation allele frequencies in controls and patients; ref cDNA, reference allele cDNA (given that PLA2R1 is on the negative strand); cDNA, NM_007366.4; prot level, NP_031392.3; Ess, essential splice site; ss, splice site; aa, amino acid; WMGL, motif; FNII, fibronectin type II domain; CRD, cysteine-rich domain; UTR, untranslated region.

^aRare variants.

^bSignificantly associated with iMN.

^cNovel variants.

^dNot reported in 1000 Genomes; allele frequency from Single Nucleotide Polymorphism Database, release 136.