Suppl. Table 4. Analysis of FALS patients with truncated SOD1 protein
Mutation
Stop
codon
Patient
number
Onset age
Year (range)
Duration
year
Val29insA
36
15b
30.3 (20-43)
Leu126delTT
131
3
45.8
Leu126X
126
1
58
Gly127insTGGG
133
3
50 (41-59)
2.8
5
Glu132insTT
133
2
47.5 (45-50)
1.8
6
Gly141X
141
1
34
5
7
Leu144FVX
147
1
39
0.83
8
Cys146X
146
12
35.3(22-52)
2.1
This study
12
3
>4
Reference
1
2, 3
4
Notes: (1) The SOD1 convention for numbering the residue position starts from the
second codon (alanine) as the first amino acid residue, rather than the initiating
codon methionine. We thus named the mutation identified in this study to Cys146X
mutation, rather than the Cys147X. (2) Mutations involving in splice sites 9, 10 11 4, 12 or
Val118insAAAAC 13 in a sporadic ALS patient are not included in this analysis. (3) The mean
duration of patients with six different mutations in active site loop is about 2.9 years, while
the mean onset age of these patients is about 45.7 years.
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