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. 2014 Nov 5;30(1):232–238. doi: 10.1093/humrep/deu296

Table II.

Non-synonymous variants identified in NLRP2 in cases of primary infertility or RPL.

Exon Nucleotide change Protein change dbSNP
MAF Score (Minor Allele)
ID MAF (Minor Allele) Unexplained infertility RPL
2 c.11C>T p.S4L rs142463014 Unavailable 0.005(T) 0.0208(T)
2 c.15G>A p.A5A rs269912 0.122(A) 0.191(A) 0.1875(A)
2 c.175C>T p.L59F rs150097185 Unavailable 0.005(T)
3 c.312G>A p.K104K rs2217659 0.214(A) 0.154(A) 0.1875(A)
4 c.361G>A p.D121A Novel Unavailable 0.005(A)
6 c.519C>T p.F172F rs10403648 0.145(T) 0.042(T) 0.0417(T)
6 c.596C>T p.T198M rs17699678 0.061(T) 0.313(T) 0.1041(T)
6 c.715C>T p.L239L rs56073572 0.047(T) 0.138(T) 0.1041(T)
6 c.979G>C p.E327Q rs148817929 Unavailable 0.010(C)
6 c.982G>C p.E328Q rs142528551 Unavailable 0.010(C)
6 c.1010G>A p.R337Q rs149735961 Unavailable 0.0157(A) 0.0208(A)
6 c.1009T>C p.F337L rs62124644 0.005(C) 0.005(C) 0.0208(C)
6 c.1056C>T p.D352D rs3826883 0.144(T) 0.207(C) 0.2291(C)
6 c.1072C>T p.R358C rs189403101 Unavailable 0.005(T)
6 c.1480A>G p.T494A rs61735082 Unavailable 0.015(G) 0.0208(G)
6 c.1500A>G p.E500E rs3745905 0.149(G) 0.047(G) 0.0208(G)
6 c.1499A>G p.E500G rs61735083 Unavailable 0.015 0.0625
6 c.1506T>C p.D502D rs61735084 0.009(C) 0.015(C) 0.0208(C)
6 c.1519A>G p.T507A rs34804158 0.160(G) 0.212(G) 0.25(G)
6 c.1608T>C p.F536F rs10412915 0.306(C) 0.313(C) 0.3125(C)
6 c.1749C>G p.L583L rs11672113 0.293(G) 0.382(G) 0.375(G)
7 c.2044C>T p.L704L rs61733928 0.018(T) 0.026(T)
13 c.2994C>A p.I1020I rs12768 0.442(C) 0.558(C) 0.5208(C)
13 c.3089C>A p.A1052E rs1043673 0.359(A) 0.367(A) 0.3958(A)

SNP not found in the study group.

MAF, minor allele frequency.