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Table 2 Rare gene variants identified in the studied HTG population

From: Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

Gene Localization Variant Predicted aminoacid change HTG group
N (%)
Bioinformatic Analysis Control group
LPL Intron 6 c.1018 + 1G > A   2 (2.74 %) Damage 0
LMF1 Exon 2 c.205 p.(Leu69Leu) 1 (1.37 %) Damage 0
Exon 11 c.1685C > G p.(Pro562Arg) 1 (1.37 %) Damage 2 (2.2 %)
APOA5 Exon 4 c.289C > T p.(Gln97*) 1 (1.37 %) Damage 0
c.518T > C p.(Leu173Pro) 1 (1.37 %) Damage 0
GPIHBP1 Exon 2 c.226C > T p.(Arg76Cys) 1 (1.37 %) Damage 0
APOE Exon 4 c.460C > A p.(Arg154Ser) 2 (2.74 %) Damage 0
  1. Prediction of deleterious effects was performed using SIFT (http://sift.jcvi.org/), Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/) and MutationTaster (http://www.mutationtaster.org)