Table 1 of
Gee, Mol Vis 2015; 21:1093-1100. Table 1 of
Gee, Mol Vis 2015; 21:1093-1100.
Table 1. Reported PIKFIVE gene mutations associated with FCD.
| Reference | Exon | Mutation | Type of mutation | Protein change |
|---|---|---|---|---|
| Current study | 15 and 16 | c.(2007+1_2008–1)_ (2190+1_2191–1) | CNV | p.(Ile671_Glu731)del |
| Li et al. [5] | 16 | c.2098delA | frameshift | p.(Asn701fsThr*7) |
| Li et al. [5] | 16 | c.2116_2117delCT | frameshift | p.(Leu706fsVal*6) |
| Li et al. [5] | 19 | c.2551C>T | nonsense | p.(Arg851*) |
| Kotoulas et al. [7] | 19 | c.2902_2905delCCTT | frameshift | p.(Asp1021fsThr*28) |
| Li et al. [5] | 19 | c.2962C>T | nonsense | p.(Gln988*) |
| Li et al. [5] | 19 | c.3088G>T | nonsense | p.(Glu1030*) |
| Li et al. [5] | 19 | c.3112C>T | nonsense | p.(Arg1038*) |
| Current study | 19 | c.3151dupA | frameshift | p.(Asp1052fsArg*18) |
| Li et al. [5] | 19 | c.3308A>G | missense | p.(Lys1103Arg) |
| Li et al. [5] | 19 | c.3619–1G>C | splice-site | p.(Val1207fsAla*11) |
| Kawasaki et al. [6] | 24 | c.4166_4169delAAGT | frameshift | p.(Glu1389fsAsp*16) |