Table 1 Mutations in complex I

From: Mitochondrial DNA mutations in human cancer

Region Nucleotide change Nucleotide position Type of cancer Amino-acid change Reference
ND1 G-A 3434 Prostate CYS-TYR Jeronimo et al. (2001)
ND1 A-G 3505 Prostate, Pancreatic THR-ALA Jeronimo et al. (2001); Jones et al. (2001)
ND1 T-C 3308 Colon MET-THR Polyak et al. (1998)
ND1 C incertion 3566 Colon Frame shift to STOP codon TAG Habano et al. (1999)
ND1 G-A 3421 Pancreatic VAL-MET Jones et al. (2001)
ND1 A-G 3505 Pancreatic THR-ALA Jones et al. (2001)
ND1 G-A 3670 Pancreatic ALA-THR Jones et al., 2001)
ND1 C-T 3992 Thyroid THR -MET Maximo et al. (2002)
ND1 G-A 3910 Thyroid GLU-LYS Maximo et al. (2002)
ND1 G-A 3526 Thyroid ALA-THR Maximo et al. (2002)
ND1 G-A 3380 Colon ARG-GLN Habano et al. (1999)
ND1 15 bp Del 3418 Colon   Habano et al. (1999)
ND2 G-A 4580 Pancreatic CYS-TYR Jones et al. (2001)
ND2 C-T 5206 Thyroid SER-PHE Abu-Amero et al. (2005)
ND2 A-G 5298 Thyroid ILE-VAL Abu-Amero et al. (2005)
ND3 T-C 10 321 Bladder LEU-PRO Fliss et al. (2000)
ND3 G-A 10 176 Pancreatic GLY-THR Jones et al. (2001)
ND3 C-T 10 272 Thyroid LEU-PHE Maximo et al. (2002)
ND3 C-T 10 269 Thyroid LEU-PHE Maximo et al. (2002)
ND3 G-C 10 197 Thyroid ALA-PRO Maximo et al. (2002)
ND3 G-A 10 320 Thyroid VAL-ILE Maximo et al. (2002)
ND4 G-A 11 900 Breast VAL-MET Sanchez-Cespedes et al. (2001)
ND4 G-A 11 150 Head and neck ALA-THR Fliss et al. (2000)
ND4 T-C 10 970 Pancreatic PHE-LEU Jones et al. (2001)
ND4 T-C 11 703 Pancreatic LEU-PRO Jones et al. (2001)
ND4 T-C 11 781 Pancreatic ILE-THR Jones et al. (2001)
ND4 G-A 11 126 Thyroid GLU-LYS Abu-Amero et al. (2005)
ND4 C-T 11 919 Thyroid SER-LEU Abu-Amero et al. (2005)
ND4 G-A 11 016 Thyroid SER-ASN Maximo et al. (2002)
ND4L T-C 10 810 Meduloblastoma PHE-SER (Wong et al. (2003)
ND4L A-G 10 639 Thyroid ASN-SER Maximo et al. (2002)
ND4L T-C 10 563 Colon CYS-ARG Polyak et al. (1998)
ND5 G-A 13 708 Breast ALA-THR Sanchez-Cespedes et al. (2001)
ND5 G-A 13 393 Colon GLU-LYS Habano et al. (1999)
ND5 G-A 14 053 Prostate ALA-THR Jeronimo et al. (2001)
ND5 C-T 12 403 Thyroid LEU-PHE Abu-Amero et al. (2005)
ND5 A-G 12 634 Thyroid ILE-VAL Abu-Amero et al. (2005)
ND5 A-G 13 514 Thyroid ASP-GLY Abu-Amero et al. (2005)
ND5 C-G 13 580 Thyroid ALA-GLY Abu-Amero et al. (2005)
ND5 C-A 13 831 Thyroid LEU-MET Abu-Amero et al. (2005)
ND5 C-T 13 943 Thyroid THR-MET Maximo et al. (2002)
ND5 A-C 12 967 Thyroid THR-PRO Maximo et al. (2002)
ND5 T-A 12 344 Breast MET-LYS Sanchez-Cespedes et al. (2001)
ND6 A-G 14 552 Pancreatic VAL-ALA Jones et al. (2001)
ND6 G-A 14 603 Pancreatic SER-PHE Jones et al. (2001)
ND6 A-G 14 417 Thyroid VAL-ALA Abu-Amero et al. (2005)
ND6 A-G 14 430 Thyroid TRP-ARG Abu-Amero et al. (2005)
ND6 C-T 14 167 Thyroid LEU-PHE Abu-Amero et al. (2005)
ND6 C-T 14 266 Thyroid ARG-TRP Abu-Amero et al. (2005)
ND6 T-A 14 498 Thyroid MET-LYS Maximo et al. (2002)
ND6 G-T 14 560 Thyroid ASP-TYR Abu-Amero et al. (2005)