Table 3.
mtDNA homoplasmic and heteroplasmic mutations identified in fibroblast sample 7 (mtDNA7).
| mtDNA Gene Location | Nucleotide Position | Ref | MitoChip call | Nucleotide change | Comment | |
|---|---|---|---|---|---|---|
| mtDNA7 | MitoChip GSEQ | Conventional sequencing | ||||
| D-loop | 146 | T | N | T > N | T > C | N = point mutation (1) |
| D-loop | 315 | C | C | C | insC | Insertion (1) |
| D-loop | 464 | A | N | A > N | A > C | N = New point mutation (1) |
| D-loop | 523-524 | AC | AC | AC | delAC | Deletion (1) |
| 16S rRNA | 1814 | A | R | A > G | - | Heteroplasmic mutation (2) |
| 16S rRNA | 3107 | C | - | delC | delC | Deletion |
| MTND2 | 5264 | C | T | C > T | C > T | New |
| MTND4 | 11466 | T | K | T > G | - | Heteroplasmic mutation (2) |
| MTTL2 | 12307 | A | R | A > G | - | Heteroplasmic mutation (2) |
| MTTL2 | 12309 | A | R | A > G | - | Heteroplasmic mutation (2) |
| MTND5 | 13037 | C | M | C > A | - | Heteroplasmic mutation (2) |
| MTTT | 15944 | T | Y | T > C | delT | Deletion (3) |
| MTTP | 15977 | C | T | C > T | C > T | New |
| D-loop | 16189 | T | N | T > N | T > C | N = point mutation (1) |
| D-loop | 16192 | C | C | C | insC | Insertion (1) |
| D-loop | 16193 | C | C | C | delC | Deletion (1) |
| D-loop | 16343 | A | N | A > N | A > G | N = point mutation (1) |
Homozygous for the ITPA 94C > A I sequence variant (ITPA -/-), using MitoChip v2.0 vs. conventional sequencing (dye-terminator sequencing). Abbreviations = mitochondrial genes according to international notation (see www.mitomap.com). In IUPAC base codes r = A or G, k = G or T, m = A or C, y = C or T, and n = A, C, G or T. The deletion 3107C was omitted from the resequencing array. (1) not assigned by MitoChip; (2) not assigned by conventional sequencing; (3) assigned by MitoChip as point mutation not as deletion; "-" not detected by conventional sequencing.