Table 1. Summary of coding variants in SQSTM1 in FALS, SALS and FTD from different studies.

				Population prevalence				Prediction
Protein	Position	rs	Changes	FALS	SALS	FTD	Control	SIFT	PP	MT
A33V	179248034	rs200396166	c.98C>T	1/491a	2/456a		6/4418a,b	+	−	+
A53T	179248093		c.157G>A		1/456c		0/4550c,b	−	−	−
M87V	179250011		c.259A>G		1/456d		0/4660d,b	+	−	+
K102E	179250056		c.304A>G		1/456d		0/4660d,b	+	−	+
V153I	179251013	rs145056421	c.457G>A		2/456a		9/5024a,b	−	−	−
E155K	179251019		c.463G>A	1/491e			0/4300e,b	+	+	+
P228L	179252155	rs151191977	c.683C>T		1/456a		4/5024a,b	+	−	+
V234V	179252174		c.702G>A	1/491a			0/5024a,b	−		−
K238E	179252184	rs11548633	c.712A>G		1/456f		32/4824f,b,g	+	+	+
K238del	179252186-8		c.714-716delGAA		1/456a		0/724a			+
V259L	179260052		c.775G>C			1/170f	0/4445f,b	+	−	+
H261H	179260060	rs145001811	c.783C>T		1/456a		1/5038a,b	−		−
E274D	179260099	rs55793208	c.822G>C	2/491f,e	11/456f	5/170f	236/4824f,b,g	−	−	−
P296P	179260165	rs148984239	c.888G>T	1/491e			1/4679b,g	−		−
S318P	179260229		c.952T>C	1/491a			0/5038a,b	−	−	−
S318S	179260231	rs56092424	c.954C>T	2/491e			199/4674b,g	−		−
E319K	179260232	rs61748794	c955G>A			1/170f	2/4817f,b,g	−	−	−
R321C	179260238	rs140226523	c.961C>T		1/456a		5/5407a,b,g	+	−	−
K344E	179260647		c.1032A>G			1/170f	0/4805f,d,b	+	+	+
V346V	179260655	rs150470670	c.1038G>A	1/491e			4/4300b	−		+
P348L	179260660		c.1044C>T		1/456f		0/4805f,d,b	+	+	+
S370P	179260725	rs143956614	c.1108T>C	1/491a			0/5393a,f,b	−	−	+
A390X	179260783		c.1165+1G>A		1/456		−			+
P392L	179263445	rs104893941	c.1175C>T	5/517a,d,e	1/542a,e		22/5999a,f,d,e,b,g	+	+	+
G411S	179263501	rs143511494	c.1231G>A	1/491a			0/5397a,d,b	+	+	+
G425R	179263543	CM041449	c.1273G>A	1/491a			0/5397a,d,b	+	+	+
P438L	179263586		c.1313C>T		1/456f		1/4805f,d,b	+	+	+
P439L	179263676	rs199854262	c.1316C>T		1/456c		0/4910c,d,b	+	+	+

Mutations identified in this study are in bold, and the frequencies comprise heterozygous and homozygous minor genotypes. All changes shown are exonic except that p.Ala390*, also known as IVS7+1 G>A, occurred at the splice site of intron 7. Data from the EUR subgroup of 1000 Genome Project and EA subgroup of NHLBI Exome sequencing project and ‘in house' controls published in previous studies were combined as reference controls. The effects of mutations were predicted using SIFT, Polyphen 2(PP) and Mutation taster (MT): ‘+'=probably damaging; ‘–' =tolerated.

^aFecto (FALS, n=340; SALS, n=206; control, n=724).

^bExome variant server, NHLBI GO exome sequencing project (ESP), Seattle, WA (URL: http://evs.gs.washington.edu/EVS/) (April, 2013).

^cHirano (SALS, n=52; control, n=250).

^dTeyssou (FALS, n=90; SALS, n=74; control, n=360).

^eCurrent study (FALS, n=61+26, SALS, n=86, control, n=78).

^fRubino (SALS, n=124; control=145).

^g1000 genomes (EUR, n=379).