Skip to main content

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)