Lipids in Health and Disease

Table 4 The detailed database information on APOA5 variants

From: The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis

APOA5 Variant																	HLAP group		BAP group
Gene location	Nucleotide change	Protein change	SNP ^a	variant	SIFT^b	Polyphen2-HDIV^c	LRT^d	Mutation Taster^e	Mutation Assessor^f	CADD^g	GnomAD-ALL^h	GnomAD-EASⁱ	GnomAD-AMR^j	phylo-HMM^k	References	status	N	TG	N	TG
pathogenic mutations
exon2	c.104G > A	p.S35N	rs184390502	known	D	P	N	N	M	21	5.35E-05	6.69E-04	0.00E + 00	0.046		het	1	29.83	0	na
exon3	c.500A > T	p.D167V	rs762999453	known	D	B	N	D	M	20.9	4.00E-06	5.45E-05	0.00E + 00	0.419		het	1	21.8	0	na
exon3	c.553G > T	p.G185C	rs2075291	known	D	D	N	N	M	24.5	6.23E-03	6.77E-02	2.83E-04	-0.055	[39]	het	42	15.43 ± 16.89	1	1.06
exon3	c.553G > T	p.G185C	rs2075291	known	D	D	N	N	M	24.5	6.23E-03	6.77E-02	2.83E-04	-0.055		hom	7	10.77 ± 8.31	0	na
exon3	c.563A > T	p.K188I	na	novel	D	P	N	N	M	22.2	na	na	na	-0.033		het	1	13.42	0	na
exon3	c.667C > T	p.R223C	na	novel	D	D	D	D	M	29	na	na	na	0.419		het	1	16.75	0	na
exon3	c.544_545 insGGTGC	p.H182fs	na	novel	na	na	na	na	na	na	na	na	na	na		het	1	9.56	0	na
Benign mutations
exon2	c.77G > T	p.G26V	rs548745995	known	T	P	N	D	M	24	4.15E-06	5.62E-05	0.00E + 00	0.514		het	0	na	1	0.74
exon3	c.457G > A	p.V153M	rs3135507	known	T	B	N	P	L	13.66	5.09E-02	1.19E-01	4.59E-02	0.43	[40]	het	47	20.32 ± 19.55	10	0.88 ± 0.24
exon3	c.457G > A	p.V153M	rs3135507	known	T	B	N	P	L	13.66	5.09E-02	1.19E-01	4.59E-02	0.43		hom	5	19.18 ± 22.99	1	0.71
exon3	c.538G > C	p.V180L	rs753800578	known	T	B	N	N	M	17.37	2.41E-05	3.29E-04	0.00E + 00	-0.042	[41]	het	0	na	1	0.81
exon3	c.788G > A	p.G263D	na	novel	T	B	N	N	L	1.838	na	na	na	-0.042		het	1	108.75	0	na

het heterozygote, hom: homozygote, N number of people carrying the mutation in the group
^aThe number of mutations in the dbSNP (v147), na not available
^bSIFT, D: deleterious, T: tolerated
^cPolyphen2-HDIV, D probably damaging, P possibly damaging, B benign
^dLRT, D: deleterious, N neutral, U unknown
^eMutation Taster, D disease causing, N polymorphism, P polymorphism automatic
^fMutation Assessor, high (H) and medium (M) are damaging, and low (L) and neutral (N) are benign
^gCADD > 15 is deleterious, ≥ 20 is anticipated to be ranked among the top 1% of the most deleterious mutations in the human genome
^h⁻^jThe allele frequency (%) in total / East Asian / Latin American populations from gnomAD
^kThe phylo-HMM model assesses the conservation of residues in 20 mammalian species; the higher the score, the greater the conservation

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