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. 2013 Feb 21;24(4):677–683. doi: 10.1681/ASN.2012070730

Table 2.

Sequence variants in PLA2R1 observed in 60 anti-PLA2R1–positive patients

Chr Position Name Ref All CEU AF AF Patients P Value Ref cDNA cDNA Prot Level Effect Exon Observations
2 160808075 rs3828323a C C/T 0.511 0.381 0.0090 G c.3316G>A p.Gly1106Ser Missense 24 Linker region between CTLD6 and CTLD7
2 160808076 rs72954858 G G/A 0.012 0.042 0.014 C c.3315C>T p.His1105= Synonymous 24 Linker region between CTLD6 and CTLD7
2 160833188 rs2715918a A A/G 0.821 0.700 0.0020 T c.2437+8T>C Intron 16
2b 160840584 rs149133741 C A/C 0.005 0.008 G c.2038G>T p.Val680Leu Missense 13 CTLD4
2b 160862197 rs149960520 C C/T 0c 0.008 G c.1800G>A p.Pro600= Synonymous 11 CTLD3
2b 160873180 rs140427239 T C/T 0 0.008 A c.1496A>G p.Tyr499Cys Missense 9 CTLD2 2 aa from C4
2 160879259 rs33985939 C C/T 0.094 0.038 0.055 G c.1211G>A p.Arg404His Missense 7 CTLD2 1 aa from C1
2 160885418 rs35771982a G G/C 0.480 0.250 0.0000035 C c.898C>G p.His300Asp Missense 5 CTLD1
2 160885442 rs3749117a T T/C 0.485 0.250 0.0000021 A c.874A>G p.Met292Val Missense 5 WMGL motif of CTLD1
2b 160889495 rs149256089 A A/G 0.001c 0.008 T c.816T>C p.Asp272= Synonymous 4 CTLD1
2 160901517 rs4665143a A A/G 0.629 0.430 0.000049 T c.261T>C p.Ser87= Synonymous 2 CRD
2 160918984 rs925409 T T/A 0.074 0.068 0.81 A c.-70A>T 5′-UTR 1
2 160919020 rs3749119a C C/T 0.339 0.152 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; aa, amino acid; WMGL, motif; FNII, fibronectin type II domain; CRD, cysteine-rich domain; UTR, untranslated region.

a

Significantly associated with iMN.

b

Rare variants.

c

Not reported in 1000 Genomes; allele frequency from Single Nucleotide Polymorphism Database, release 136.