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Table 3 Cancer cohort mutations detected

From: Performance of mitochondrial DNA mutations detecting early stage cancer

   MitoMap Position Blood Tumor Body Fluid Gene amino acid/location
Lung 1 1719 G * r * 16S rRNA -
   2312 A * * r 16S rRNA -
   3385 A g r g ND1 Ile>Val
   3450 C t y t ND1 Pro>Pro
   3480 A * r * ND1 Lys>Lys
   4901 A g r g ND2 Gln>Gln
   5773 G a r a tRNACys T arm
  2 3450 C * y n/a ND1 Pro>Pro
   4580 G a r n/a ND2 Met>Met
   4901 A * r n/a ND2 Gln>Gln
  3 16162 A * g * D-Loop -
   16284 A * g * D-Loop -
  4 10245 T * y * ND3 Leu(2)>Leu(1)
   13856 T * y * ND5 Leu2>Pro
  5 10427 G * r * tRNAArg anticodon arm
   10885 T * y * ND4 Phe>Phe
   11083 A * r * ND4 Met>Met
  6 8705 T * * y ATPase 6 Met>Thr
  7 - - - - - -
  9 6413 T c c y COI Asp>Asp
   11072 T * y * ND4 Ser(1)>Pro
Bladder 1 12236 G * r n/a tRNASer -
  2 12477 T * y * ND5 Ser(2)>Ser(2)
  3 1193 T * y * 12S rRNA -
  4 5169 T * n/a y ND2 Trp>Arg
   6483 C * n/a y COI Leu(2)>Phe
   10668 G * n/a r ND4L Ala>Thr
   12714 T * n/a y ND5 Ile>Ile
Kidney 1 841 A * r * 12S rRNA -
   2731 T * y * 16S rRNA -
   12139 T * y * tRNAHis acceptor arm
  2 1816 G * r n/a 16S rRNA -
   3454 G * r n/a ND1 Ala>Thr
  3 12477 T * y * ND5 Ser(1)>Ser(2)
  4 841 A * r * 12S rRNA -
   11394 T * y * ND4 Leu(1)>Pro
  5 12148 T * y n/a tRNAHis D arm
  6 1074 G * r * 12S rRNA -
   3244 G * r * tRNALeu D arm
   14766 C t t * CytB Ile>Thr
  7 - - n/a - - -
  8 6800 A * * g COI Val>Val
  9 15283 T * y * CytB Phe>Phe
  10 12471 T * * y ND5 Ile>Ile
  11 - - - - - -
  12 12714 T * * y ND5 Ile>Ile
  13 7148 T * y * CO I Thr>Thr
  14 72 T * a * D-Loop -
  1. * : sequence identical to reference sequence
  2. n/a : no data available due to insufficient DNA quantity or STR genotyping results
  3. - : no sequence differences between samples or unknown change to gene
  4. r: purine heteroplasmy (A + G)
  5. y: pyrimidine heteroplasmy (C + T)