Table 1. CAPN3 Mutations in Korean Patients with Calpainopathy.
| Location | Mutation* | Putative effect | Affected family | References |
|---|---|---|---|---|
| Exon 5 | c.706G>A | p.A236T | F4 | Krahn, et al.5 |
| Exon 11 | c.1468C>T | p.R490W | F3 | Fanin, et al.15 |
| Intron 11 | c.1524+1G>T | Aberrant splicing | F7 | Novel |
| Exon 15 | c.1789_1790insA | Frameshift | F4, F7, F8 | Novel |
| Exon 15 | c.1795dupA | Frameshift | F1, F2 | Chae, et al.16 |
| Intron 18 | c.2050+1G>A | Aberrant splicing | F3 | Chae, et al.16 |
| Exon 20 | c.2120A>G | p.D707G | F1, F5, F6, F8, F9 | Chae, et al.16 |
| Intron 20 | c.2184+1G>T | Aberrant splicing | F10 | Novel |
| Exon 23 | c.2384C>T | p.A795V | F5 | Novel |
*Mutation was assigned according to the CAPN3 (NM_000070) mRNA sequences.