. Author manuscript; available in PMC: 2015 Mar 3.

Published in final edited form as: Mol Genet Metab. 2014 Jan 13;111(3):382–389. doi: 10.1016/j.ymgme.2014.01.002

Table 8.

Missense HEXB variants found in the 1000 Genomes dataset.

Variant	Global MAF^a	Highest frequency population	Consequence	SIFT^b	Polyphen-2^c
c.185C>T	0.02060	TSI	p.Ser62Leu	1 tolerated	0.001 benign
c.251A>G	0.00046	CHB	p.Asn84Ser	1 tolerated	0 benign
c.362A>G	0.20742	LWK	p.Lys121Arg	0.65 tolerated	0 benign
c.449C>A	0.00641	ASW	p.Tyr150Asn	0.18 tolerated	0.021 benign
c.619A>G	0.15064	JPT	p.Ile207Val	0.31 tolerated	0.157 benign
c.922C>G	0.00046	ASW	p.Pro308Ala	0.08 tolerated	0.012 benign
c.1258A>G	0.01236	LWK	p.Ile420Val	1 tolerated	0.02 benign
c.1437A>C	0.00046	ASW	p.Gln479His	0.15 tolerated	0.001 benign
c.214C>T	0.00595	IBS	p.Leu72Phe	0.001 deleterious	0.49 possibly damaging
c.923C>T	0.00046	MXL	p.Pro308Leu	0.001 deleterious	0.642 possibly damaging
c.1066G>A	0.00046	CHS	p.Val356Met	0 deleterious	0.999 Probably Damaging
c.1250C>T	0.00137	JPT	p.Pro417Leu	0.01 deleterious	0.503 possibly damaging
c.1367A>C	0.00046	TSI	p.Tyr456Ser	0.19 tolerated	0.673 possibly damaging

Global MAF: Global minor allele frequency.

SIFT scores are deleterious if less than or equal to 0.05 and tolerated if greater than 0.05.

PolyPhen-2 prediction score can range from 0 (benign) to 1 (probably damaging) with a default cut-off of 0.432.