. 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 3.

HEXB variants found in the northern Saskatchewan population.

Variant	Exon	# alleles found/# alleles analyzed	Consequence	Previously described	Polyphen-2 prediction^a	PROVEAN prediction^b
c.115delG	1	63/3122	Reading frame shift	Yes [11]	N/A	N/A
c.362A>G	2	3/48	p.Lys121Arg	No	0.00 benign	−0.353 neutral
c.619A>G	5	16/48	p.Ile207Val	Yes [20]	0.281 benign	−0.964 neutral
c.1601G>T	13	1/48	p.Cys534Phe loss of C534-C551 bond	No c.1601G>A described [21]	1.00 probably damaging	−10.029 deleterious
c.1652G>A	14	1/48	p.Cys551Tyr loss of C534-C551 bond	No	1.00 probably damaging	−9.773 deleterious

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

PROVEAN scores are deleterious if less than −2.5 and neutral if greater than −2.5 using default settings.