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Table 1 Summary of the coding polymorphic variants found in CFTD-LVNC genes

From: Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Gene Amino acid change rs MAF
SEPN1 C142Y rs7349185 16%
SEPN1 P391P rs760597 20%
SEPN1 N502K rs2294228 28%
RYR1 L198L rs2229139 39%
RYR1 P762P rs3745847 38%
RYR1 T981T rs2228069 40%
RYR1 N993N rs2228070 24%
MYH7 I989I rs7157716 35%
MYH7 K365K rs735711 9%
MYH7 F244F rs2069542 22%
LMNA H454H rs4641 20%
TNNT2 I101I rs3729547 32%
TNNI3 E179E rs3729841 4%
  1. MAF minor allele frequency.