n (%) | |
Location | |
N-terminal domain | 6 (9.5) |
SIX domain | 27 (42.9) |
Homeodomain | 22 (34.9) |
C-terminal domain | 8 (12.7) |
Exon 1 | 57 (90.5) |
Exon 2 | 6 (9.5) |
Mutation type | |
Missense | 44 (69.8) |
Nonsense | 6 (9.5) |
Duplication→ FS | 6 (9.5) |
Deletion→FS | 3 (4.8) |
Splice mutation | 1 (1.6) |
9 bp deletion → 3 aa deletion | 1 (1.6) |
3 bp deletion → 1 aa deletion | 1 (1.6) |
Deletion/insertion → nonsense | 1 (1.6) |
aa, Amino acid; FS, frameshift; MIHV, middle interhemispheric variant.