Table 1

The 31 identified mutations in the 162 familial amyotrophic lateral sclerosis (FALS) index cases

Genes	Family number	Nucleotide change^*	Amino acid change^† (HGVS)	Amino acid change^‡	Exon	First description of the mutation
SOD1	F1S	c.65A→G	p.Glu22Gly	E21G	1	27
	F2S	c.112G→A	p.Gly38Arg	G37R	2	1
	F3S	c.116T→G	p.Leu39Arg	L38R	2	27
	F4S	c.124G→A	p.Gly42Ser	G41S	2	1
	F5S	c.124G→A	p.Gly42Ser	G41S	2	1
	F6S	c.139C→G	p.His47Asp	H46D	2	This report
	F7S	c.200C→G	p.Pro67Arg	P66R	3	This report
	F8S	c.251A→G	p.Asp84Gly	D83G	4	This report
	F9S	c.255G→C	p.Leu85Phe	L84F	4	27 28
	F10S	c.253T→G	p.Leu85Val	L84V	4	29
	F11S	c.260A→G	p.Asn87Ser	N86S	4	30
	F12S	c.280G→T	p.Gly94Cys	G93C	4	1
	F13S	c.281G→C	p.Gly94Ala	G93A	4	1
	F14S	c.281G→A	pGly94Asp	G93D	4	31
	F15S	c.281G→T	p.Gly94Val	G93V	4	32
	F16S	c.355G→C	p.Val119Leu	V118L	4	33
	F17S	c.418A→G	p.Asn140Asp	N139D	5	34
	F18S	c.443G→A	p.Gly148Asp	G147D	5	34
	F19S	c.443G→A	p.Gly148Asp	G147D	5	34
	F20S	c.455T→C	p.Ile152Thr	I151T	5	35

ANG	F21A	c.122A→T	p.Lys41Ile	K17I	1	4
VAPB	F22V	c.166C→T	p.Pro56Ser	P56S	2	2

TARDBP	F23T	c.883G→A	p.Gly295Ser	G295S	6	19 21
	F24T	c.943G→A	p.Ala315Thr	A315T	6	6
	F25T	c.1042G→T	p.Gly348Cys	G348C	6	6
	F26T	c.1144G→A	p.Ala382Thr	A382T	6	6
	F27T	c.1144G→A	p.Ala382Thr	A382T	6	6
	F28T	c.1150G→C	p.Gly384Arg	G384R	6	This report
	F29T	c.1153T→G	p.Trp385Gly	W385G	6	This report

FUS	F30F	c.1542G→T	p.Arg514Ser	R514S	15	12
	F31F⁽¹⁾	c.1561C→A	p.Arg521Ser	R521S	15	This report
	F32F	c.1561C→T	p.Arg521Cys	R521C	15	12 13
	F33F⁽²⁾	c.1561C→T	p.Arg521Cys	R521C	15	12 13
	F34F	c.1561C→T	p.Arg521Cys	R521C	15	12 13
	F35F	c.1562G→A	p.Arg521His	R521H	15	12 13
	F36F	c.1562G→T	p.Arg521Leu	R521L	15	This report

↵* cDNA numbering is according to the following transcripts: SOD1 (NM_000454.4), ANG (NM_001145.4 or NM_001097577.2), VAPB (NM_004738.3), TARDBP (NM_8007375.3), FUS (NM_ 0049602).
↵† Amino acid numbering according to Human Genome Variation Society guidelines (http://www.hgvs.org/).
↵‡ Amino acid numbering according to the ALS Online Database (http://alsod.iop.kcl.ac.uk/Als/index.aspx), which has been used in the previous published reports on SOD1 and ANG mutations. These numberings lack the first methionine codon for SOD1 or the signal peptide sequence (24 amino acids in length including the initiator methionine) for ANG. Index cases of F31F and F33F families (with FUS mutation) also carry K54E(1) or K17I(2) ANG variants.