Pedigree | Patient ID number | Gene | Position (hg19) | dbSNP | Transcript | Variations | Supporting evidence | |
Nucleotide | Amino acid | |||||||
MITO005 | 50845 | NDUFB3 |
| NM_002491.2 |
| Rescue, seg, conserv, truncation | ||
MITO036 | 33463 | NDUFS3 | chr11:47603988 | rs104894270 | NM_004551.2 | c.532C>T hom | p.Arg199Trp | Known disease variant17 |
MITO004 | 33284 | NDUFS8 |
| NM_002496.3 |
| Rescue, seg, conserv | ||
MITO021 | 33027 | NDUFS8 | chr11:67800467 | NM_002496.3 | c.187G>C hom* | p.Glu63Gln | Rescue, seg, conserv | |
MITO053 | 59029 | ACAD9 | chr3:128528894 | NM_014049.4 | c.1594C>T hom | p.Arg532Trp | Known disease variant14 | |
MITO049 | 44409 | MTFMT |
| NM_139242.3 |
|
| Truncation, seg, known disease variant,18 skipping exon 4 | |
MITO061 | 61606 | MTFMT | chr15:65313871 | NM_139242.3 | c.626C>T hom |
| Known disease variant,18 skipping exon 4 |
↵* Previously undescribed DNA variant.
conserv, amino acid conserved in ≥85% of 39–42 vertebrate species; het, heterozygous; hom, homozygous; rescue, pathogenicity established by rescue of complex I defect in patient fibroblasts; seg, variant segregates with disease phenotype in family.