Table 1.

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

ChrPositionNameRefAllCEU AFAF PatientsP ValueRef cDNAcDNAProt LevelEffectExonObservations
2a160803929rs181959329CC/T00.005Gc.3850+1G>AEss26Donor ss
2160808075rs3828323bCC/T0.5110.3820.0016Gc.3316G>Ap.Gly1106SerMissense24Linker region between CTLD6 and CTLD7
2160808076rs72954858GG/A0.0120.0270.13Cc.3315C>Tp.His1105=Synonymous24Linker region between CTLD6 and CTLD7
2160833188rs2715918bAA/G0.8210.7160.0013Tc.2437+8T>CIntron16
2c160840562NovelAA/G0d0.005Tc.2060T>Cp.Leu687ProMissense13CTLD4
2a160840584rs149133741CA/C0.0050.011Gc.2038G>Tp.Val680LeuMissense13CTLD4
2a160862197rs149960520CC/T0d 0.005Gc.1800G>Ap.Pro600=Synonymous11CTLD3
2a160873180rs140427239TC/T00.005Ac.1496A>Gp.Tyr499CysMissense9CTLD2 2 aa from C4
2160879259rs33985939CC/T0.0940.0410.02Gc.1211G>Ap.Arg404HisMissense7CTLD2 1 aa from C1
2c160879310NovelCC/T0d0.005Gc.1160G>Ap.Arg387HisMissense7CTLD2
2a160879311rs150221555GA/G0d0.006Cc.1159C>Tp.Arg387CysMissense7CTLD2
2160885418rs35771982bGG/C0.4800.2960.0000057Cc.898C>Gp.His300AspMissense5CTLD1
2160885442rs3749117bTT/C0.4850.2960.0000031Ac.874A>Gp.Met292ValMissense5WMGL motif of CTLD1
2a160889495rs149256089AA/G0.001d0.005Tc.816T>Cp.Asp272=Synonymous4CTLD1
2a160898605rs141800672CA/C0d0.005Gc.598G>Tp.Asp200TyrMissense2FNII
2160901517rs4665143bAA/G0.6290.4540.000021Tc.261T>Cp.Ser87=Synonymous2CRD
2160918984rs925409TT/A0.0740.0800.78Ac.-70A>T5′-UTR1
2160919020rs3749119bCC/T0.3390.1860.000049Gc.-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; Ess, essential splice site; ss, splice site; aa, amino acid; WMGL, motif; FNII, fibronectin type II domain; CRD, cysteine-rich domain; UTR, untranslated region.

  • a Rare variants.

  • b Significantly associated with iMN.

  • c Novel variants.

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