Table 2

Mutations identified in those with apparently sporadic amyotrophic lateral sclerosis

GeneVariantCases (n)
ANG p.K78E*2
p.R146H1
C9orf72 Expansion mutation*36
DAO p.R199Q1
DCTN1 p.V1081M1
p.T12A1
p.R785W1
FUS p.R269W1
p.R521C1
p.P431L1
p.R521L1
p.G507D1
p.221_221del1
OPTN p.R545Q1
Exon 7/Intron 7 splice site1
p.Q441X1
p.E380fs1
p.V295F1
p.N303K1
p.G509R1
p.A184V*1
p.K413fs*1
p.R271H*1
p.F226S1
PFN1 p.E117D*1
p.E117G*1
SOD1 p.D91A1
p.T40A*1
p.S135G*1
p.I114T2
p.L9V1
SQSTM1 p.K238E*7
p.P392L*2
TARDBP p.G287S*3
p.A90V1
UBQLN2 p.A603D1
p.T334M3
p.L87F1
p.P497H1
p.496_499del1
VAPB p.158_159del*7
p.M170I*5
p.R184Q1
VCP p.I114V1
p.G523V1
Total103 variants
(95 people)
  • In some cases, an individual had more than one pathogenic gene variant; such cases are indicated by an asterisk and counted for each variant. Three of these had C9orf72 expansion as one of the variants.