Table 2.

SQSTM1 mutations present in patients and control individuals

Mutation	Functional domain	FTLD n = 1,808	ALS n = 395	Controls n = 3,899
p.Ala17Vala		1		1
p.Ala33Val	PB1	1		1
p.Lys103Arg	PB1	1		2
p.Ala117Val		1		3
p.Pro118Ser		1		2
p.Val153Ile	ZZ		1	3
p.Lys238Glu	TRAF6	17	6	14
p.Glu274Asp	PEST1	109	22	79
p.Arg321Cys	LIR	3	1	1
p.Pro392Leu	UBA	15	3	11
p.Pro439Leu	UBA	2		2

Functional domains according to [11] (Fig. 1b)

^aIndicates variants not previously associated with ALS, FTLD or PDB [7, 11, 17, 28, 29, 33]. For a complete description of the SQSTM1 mutations, see Supplementary table 2