Skip to main content
. 2016 Oct 20;204(4):1423–1431. doi: 10.1534/genetics.116.194035

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.