Table 2. Heteroplasmic mtDNA base substitution mutations in all oocytes.
Oocyte ID | Corr. Het-% (O-M) | Gene Location | Nucleotide Change | Amino Acid Change |
---|---|---|---|---|
1.1 | 2.5 | ND1 | m.4164C > A | Ser > Stop |
2.3 | 1.8 | COI | m.6489T > C | Phe > Ser |
2.6 | 5.4 | D-loop | m.250C > T | — |
2.6 | 5.9 | COII | m.8700G > A | Val > Lys |
2.10 | 1.6 | COI | m.6510T > A | Val > Glu |
3.2 | 3.3 | D-loop | m.283G > T | — |
3.2 | 1.9 | ND5 | m14296T > A | Ile > Asn |
3.9 | 4.1 | tRNA-Trp | m.6089G > A | — |
3.15 | 1.9 | ND4L/ ND4 | m.11303T > A | Stop > Lys |
Leu > Gln | ||||
4.4 | 3.1 | D-loop | m.1818A > T | — |
4.10 | 1.9 | D-loop | m.532G > A | — |
4.10 | 2.1 | ND4 | m.11708G > A | Trp > Stop |
5.2 | 2.7 | ND1 | m.4077G > A | Trp > Stop |
5.2 | 2.2 | COI | m.7112C > T | Leu > Phe |
5.2 | 1.6 | COI | m.7247T > G | Trp > Gly |
5.2 | 2.2 | COI | m.7574G > T | Gly > Trp |
5.2 | 2.2 | COI | m.7580G > A | Val > Met |
5.3 | 1.8 | ND6 | m.14894T > A | Leu > Phe |
5.10 | 1.6 | 12s rRNA | m.1220A > G | — |
5.10 | 2.4 | COI | m.7112C > T | Leu > Phe |
5.10 | 2.1 | COI | m.7247T > G | Trp > Gly |
5.10 | 1.9 | COI | m.7253A > G | Met > Val |
5.10 | 1.8 | COIII | m.9909C > A | Arg > Stop |
5.10 | 1.6 | ND4 | m.11500G > C | Val > Leu |
5.10 | 1.5 | tRNA-Leu | m.12838T > G | — |
5.10 | 1.6 | ND5 | m.13472C > T | Tyr > Tyr |
5.13 | 8.2 | ND6 | m.14761G > A | Leu > Leu |
7.3 | 1.5 | 16s rRNA | m.2632A > G | — |
7.8 | 1.7 | 16s rRNA | m.2537A > G | — |
7.9 | 2.5 | 12s rRNA | m.1550G > C | — |
7.9 | 1.8 | ND4 | m.12263T > G | Leu > Arg |
7.9 | 1.6 | ND5 | m.13205T > G | Phe > Leu |
7.9 | 1.6 | CytB | m.16232A > C | Thr > Pro |
7.9 | 1.5 | CytB | m.16324A > T | Gly > Gly |
8.5 | 2.8 | ND5 | m.14400C > T | Leu > Leu |
8.6 | 9.0 | tRNA-Gly | m.10578C > A | — |
8.6 | 1.5 | ND4 | m.12464G > T | Trp > Leu |
8.10 | 4.6 | tRNA-Gly | m.10578C > A | — |
ID, identifier; Corr. Het-%, oocyte heteroplasmy value (percentage) corrected from noise signal by subtracting the average heteroplasmy of the corresponding female tissues from the heteroplasmy value detected in the oocyte; amino acid change, change in amino acid due to change in the codon sequence; tRNA, transfer RNA; rRNA, ribosomal RNA.