Table 1

Frataxin mutations

Location Mutation Nucleotide change Effect Reference
Exon 11A→CA→C at 1Incorrect initiation 9
2T→CT→C at 2Incorrect initiation 9
3G→TG→T at 3Incorrect initiation 18, 22, 23
157delC1-151 Deletion of C at 157Frameshift 9
157insC1-151 Insertion of C after 157Frameshift 9
Exon 2 202GTCA→TTG GTCA→TTG at 202–205 Frameshift 1-150
Exon 3L106XT→G at 317Nonsense 1
L106ST→C at 317Missense 17
317delT Deletion of T at 317 Frameshift 1-150
340del13 Deletion of 13bp between 340 and 352 Frameshift 1-150
D122YG→T at 364Missense 9
Intron 3IVS3+1G→AG→A at 384 + 1Splice mutation 24
IVS3 − 2A→GA→G at 385 − 2Splice mutation 1
Exon 4G130VG→T at 389Missense 9, 16
I154FA→T at 460Missense 1, 11
L156PT→C at 467Missense 9
Intron 4IVS4+2T→GT→G at 482 + 2Splice mutation 19
IVS4+3delADeletion of A at 482 + 3Splice mutation 9
Exon 5aR165CC→T at 493Missense 19
W173GT→G at 517Missense 9
L182FC→T at 544Missense 19
L182HT→A at 545Missense 9
H183RA→G at 548Missense 9

  • ↵1-150 The three novel frameshift mutations described in this study are indicated in bold type.

  • ↵1-151 157delC and 157insC were originally designated 158delC and 158insC, respectively.9