Table 2.

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

ChrPositionNameRefAllCEU AFAF PatientsP ValueRef cDNAcDNAProt LevelEffectExonObservations
2160808075rs3828323aCC/T0.5110.3810.0090Gc.3316G>Ap.Gly1106SerMissense24Linker region between CTLD6 and CTLD7
2160808076rs72954858GG/A0.0120.0420.014Cc.3315C>Tp.His1105=Synonymous24Linker region between CTLD6 and CTLD7
2160833188rs2715918aAA/G0.8210.7000.0020Tc.2437+8T>CIntron16
2b160840584rs149133741CA/C0.0050.008Gc.2038G>Tp.Val680LeuMissense13CTLD4
2b160862197rs149960520CC/T0c0.008Gc.1800G>Ap.Pro600=Synonymous11CTLD3
2b160873180rs140427239TC/T00.008Ac.1496A>Gp.Tyr499CysMissense9CTLD2 2 aa from C4
2160879259rs33985939CC/T0.0940.0380.055Gc.1211G>Ap.Arg404HisMissense7CTLD2 1 aa from C1
2160885418rs35771982aGG/C0.4800.2500.0000035Cc.898C>Gp.His300AspMissense5CTLD1
2160885442rs3749117aTT/C0.4850.2500.0000021Ac.874A>Gp.Met292ValMissense5WMGL motif of CTLD1
2b160889495rs149256089AA/G0.001c0.008Tc.816T>Cp.Asp272=Synonymous4CTLD1
2160901517rs4665143aAA/G0.6290.4300.000049Tc.261T>Cp.Ser87=Synonymous2CRD
2160918984rs925409TT/A0.0740.0680.81Ac.-70A>T5′-UTR1
2160919020rs3749119aCC/T0.3390.1520.000049Gc.-106G>A5′-UTR1
  • 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.