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

Table 3 Comparison of allele frequencies of variants in our HTG population and 1000 Genomes project

Gene	Nucleotide change	Predicted aminoacid change	Frequency in HTG population	Frequency in the population 1000 Genomes	p	Bioinformatic Analysis
LPL	c.106G > A	p.(Asp36Asn)	0.055	0.013	0.001	Benign
	c.−281T > G		0.062	0.013	<0.001	Damage
LMF1	c.205C > T	p. (Leu69Leu)	0.007	0.0001	0.017	Damage
	c.288 + 298C > T		0.007	0.394	<0.001	Benign
APOA5	C.−3 A > G		0.185	0.080	<0.001	Benign
	c.56C > T	p.(Ser19Trp)	0.185	0.057	<0.001	Damage
	c.132C > A	p.(Ile44Ile)	0.178	0.056	<0.001	Benign
	c.162-43A > G		0.134	0.080	0.040	Benign
GPIHBP1	c.−509 G > A		0.164	0.442	<0.001	Unknown
	c. −208 G > C		0.240	0.443	<0.001	Unknown
	c.138G > T	p.(Val46Val)	0.281	0.443	0.0003	Benign
	c.295 + 19G > A		0.007	0.000	0.0226	Benign
	c.295 + 28G > A		0.007	0.000	0.0226	Benign
APOC2	c.−116T > A		0.50	0.376	0.004	Benign
	c.−89C > G		0.027	0.009	0.048	Benign
	c.56–30G > A		0.007	0.000	0.008	Benign
	c.216–81T > C		0.344	0.491	0.007	Benign

All variants are described in accordance with the latest recommendations of HGVS (http://www.hgvs.org/mutnomen). The p value was calculated by χ2 test
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)

ISSN: 1476-511X