Clinical and molecular data of patients with familial amyotrophic lateral sclerosis who have SOD1 mutations
| Patient | Age at onset (years) | Affected family members | Sequence variant* | Codon change | Exon | Amino acid change | |
|---|---|---|---|---|---|---|---|
| Individuals (n) | Generations (n) | ||||||
| *Nucleotide position according to AH003628; †from Kostrzewa et al.9 | |||||||
| ALS3.7 | 42 | 5 | 3 | 1152C>G | CGC/GGC | 4 | Arg115Gly |
| ALS73.1 | 52 | 2 | 5 | 1152C>G | CGC/GGC | 4 | Arg115Gly |
| ALS129.1 | 60 | 5 | 4 | 1152C>G | CGC/GGC | 4 | Arg115Gly |
| ALS179.1 | 74 | 3 | 3 | 1152C>G | CGC/GGC | 4 | Arg115Gly |
| ALS94.1 | 61 | 2 | 2 | 1086G>C | GGC/GCC | 4 | Gly93Ala |
| ALS175.1 | 41 | 4 | 3 | 1107G>A | GAA/AAA | 4 | Glu100Lys |
| ALS141.1 | 53 | 2 | 1 | 494A>G | CAT/CGT | 2 | His46Arg |
| ALS136.1 | 47 | 2 | 2 | 1501G>C | TTG/TTC | 5 | Leu144Phe |
| ALS27.1 | 48 | 2 | 2 | 1522T>C | ATA/ACA | 5 | Ile151Thr† |