. Author manuscript; available in PMC: 2017 Oct 17.

Published in final edited form as: Chem Res Toxicol. 2016 Sep 21;29(10):1741–1754. doi: 10.1021/acs.chemrestox.6b00244

Table 1.

Human POLK Gene Variations Studied

rs ID^a	nucleotide change	amino acid change	protein domain	minor allele frequency^b	prediction^c

					SIFT	PolyPhen-2
rs148960463	c.85G>A	E29K	N-clasp	0.0006	deleterious	possibly damaging
rs182817281	c.131C>T	T44M	N-clasp	0.0002	deleterious	possibly damaging
rs150515841	c.575T>G	F192C	Palm	0.0001^d	deleterious	probably damaging
rs201034973	c.736C>T	R246X	Palm	0.0002	n/a^e	n/a
rs142203892	c.874G>A	E292K	Palm	0.0004^d	deleterious	probably damaging
rs151251843	c.893G>A	R298H	Palm	0.0004	deleterious	probably damaging
rs149894654	c.1412C>T	A471V	PAD	0.0004	deleterious	probably damaging
rs186798689	c.1417A>G	T473A	PAD	0.0004	deleterious	probably damaging
rs142724854	c.1534C>T	R512W	PAD	0.0001^d	deleterious	probably damaging

Reference SNP identification number provided by dbSNP.

From 1000 Genomes project.

Possible functional effects of missense variations are predicted in silico using SIFT and PolyPhen-2 (HumVar model).

From the NHLBI ESP6500 resource described in 1000 Genomes.

Not applicable.