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MITOMAP: MtDNA Somatic Mutations

Last edited May 02, 2008
Locus Nucleotide
Position
Nucleotide Change Amino Acid Change Homo-
plasmy
Hetero-
Plasmy
Cell or Tissue type Note References
MT-DLOOP 32 A-G noncod - + POLG/PEO patient . references
MT-DLOOP 45 A-G noncod - + control skeletal muscle . references
MT-DLOOP 46 T-C noncod - + control skeletal muscle . references
MT-DLOOP 52 T-C noncod + - ovarian tumor . references
MT-DLOOP 55 T-C noncod - + control skeletal muscle . references
MT-DLOOP 59 T-C noncod - + control skeletal muscle . references
MT-DLOOP 62 G-C noncod - + aging brains . references
MT-DLOOP 64 C-A noncod - + POLG/PEO muscle . references
MT-DLOOP 64 C-T noncod - + aging brains . references
MT-DLOOP 66 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 67 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 72 T-C noncod - + aging brains, POLG/PEO & control muscle . references
MT-DLOOP 73 A-G noncod + + aging brains, POLG/PEO & control muscle, thyroid tumor . references
MT-DLOOP 74 T-A noncod - + POLG/PEO muscle . references
MT-DLOOP 74 T-G noncod - + POLG/PEO muscle . references
MT-DLOOP 80 C-A noncod - + POLG/PEO muscle . references
MT-DLOOP 84 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 91 C-T noncod - + control skeletal muscle . references
MT-DLOOP 92 G-A noncod - + aging brains . references
MT-DLOOP 97 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 98 C-del noncod + - thyroid tumor . references
MT-DLOOP 100 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 107 G-del noncod + - thyroid tumor . references
MT-DLOOP 112 C-T noncod - + control skeletal muscle . references
MT-DLOOP 114 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 115 T-C noncod + - thyroid tumor . references
MT-DLOOP 117 T-C noncod - + control skeletal muscle . references
MT-DLOOP 121 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 122 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 124 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 125 T-C noncod - + POLG/PEO & control muscle . references
MT-DLOOP 137 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 146 T-C noncod - + elderly fibroblasts, aging/AD brains, POLG/PEO & control muscle, prostate tumor . references
MT-DLOOP 146 T-C noncod + - ovarian carcinoma . references
MT-DLOOP 148 A-G noncod - + control skeletal muscle . references
MT-DLOOP 150 C-T noncod + + elderly fibroblasts, leukocytes, lung-cancer cells, thyroid tumor . references
MT-DLOOP 152 T-C noncod - + aging brains,elderly fibroblasts . references
MT-DLOOP 152 T-C noncod + - ovarian carcinoma . references
MT-DLOOP 159 T-A noncod - + POLG/PEO muscle . references
MT-DLOOP 162 C-G noncod - + POLG/PEO muscle . references
MT-DLOOP 168 T-C noncod - + control skeletal muscle . references
MT-DLOOP 174 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 178 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 180 T-C noncod - + POLG/PEO muscle . references
MT-DLOOP 182 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 183 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 185 G-A noncod + + POLG/PEO muscle, thyroid tumor . references
MT-DLOOP 185 G-C noncod - + POLG/PEO muscle . references
MT-DLOOP 186 C-T noncod - + POLG/PEO & MNGIE muscle . references
MT-DLOOP 187 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 188 A-C noncod - + POLG/PEO muscle . references
MT-DLOOP 189 A-G noncod - + elderly muscle & brains, POLG/PEO muscle & fibroblasts, various tumors . references
MT-DLOOP 190 C-CA noncod - + POLG/PEO muscle . references
MT-DLOOP 190 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 191 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 192 T-del noncod - + POLG/PEO muscle . references
MT-DLOOP 192 T-A noncod - + POLG/PEO muscle . references
MT-DLOOP 194 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 195 T-C noncod + + elderly fibroblasts, lung-cancer cells, aging/AD brains, thyroid tumor . references
MT-DLOOP 199 T-C noncod + - ovarian carcinoma . references
MT-DLOOP 199 T-C noncod - + POLG/MNGIE muscle . references
MT-DLOOP 202 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 203 G-GT noncod - + POLG/PEO muscle . references
MT-DLOOP 204 T-C noncod - + various tumors . references
MT-DLOOP 204 T-G noncod + - LHON fibroblasts . references
MT-DLOOP 205 G-A noncod + - gastric carcinoma . references
MT-DLOOP 206 T-C noncod - + POLG/PEO & POLG/MNGIE muscle . references
MT-DLOOP 207 G-A noncod + + oral cancer, prostate tumor, thyroid tumor . references
MT-DLOOP 209 T-G noncod - + POLG/PEO muscle . references
MT-DLOOP 211 A-C noncod - + POLG/MNGIE muscle . references
MT-DLOOP 211 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 213 T-C noncod - + POLG/PEO muscle . references
MT-DLOOP 214 A-T noncod - + POLG/PEO muscle . references
MT-DLOOP 215 A-C noncod - + control skeletal muscle . references
MT-DLOOP 215 A-G noncod + - esophageal cancer . references
MT-DLOOP 223 T-C noncod - + POLG/PEO muscle . references
MT-DLOOP 229 G-A noncod - + control skeletal muscle . references
MT-DLOOP 235 A-G noncod + - prostate tumor . references
MT-DLOOP 239 T-C noncod - + POLG/PEO muscle, ovarian tumor . references
MT-DLOOP 240 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 242 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 244 A-C noncod - + POLG/PEO muscle . references
MT-DLOOP 249 A-del noncod + - ovarian control tissue . references
MT-DLOOP 249 A-G noncod - + elderly fibroblasts, POLG/PEO muscle . references
MT-DLOOP 251 G-A noncod - + POLG/PEO muscle . references
MT-DLOOP 253 C-A noncod - + POLG/PEO muscle . references
MT-DLOOP 253 C-T noncod - + POLG/PEO & control muscle . references
MT-DLOOP 254 T-A noncod - + POLG/PEO muscle . references
MT-DLOOP 260 G-C noncod - + POLG/MNGIE muscle . references
MT-DLOOP 261 C-G noncod - + POLG/PEO muscle . references
MT-DLOOP 262 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 263 A-G noncod - + POLG/MNGIE muscle . references
MT-DLOOP 266 T-G noncod - + POLG/PEO muscle . references
MT-DLOOP 270 A-T noncod - + elderly Down's Syndrome fibroblasts . references
MT-DLOOP 273 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 277 C-T noncod - + control skeletal muscle . references
MT-DLOOP 285 C-T noncod - + elderly fibroblasts . references
MT-DLOOP 290 AA-TT noncod - + MNGIE fibroblasts . references
MT-DLOOP 291 A-del noncod - + MNGIE fibroblasts . references
MT-DLOOP 291 A-G noncod - + POLG/PEO & control muscle, MNGIE fibroblasts . references
MT-DLOOP 291 A-T noncod - + MNGIE fibroblasts . references
MT-DLOOP 292 T-C noncod - + POLG/PEO muscle, MNGIE fibroblasts . references
MT-DLOOP 295 C-T noncod - + POLG/MNGIE muscle . references
MT-DLOOP 297 A-G noncod - + POLG/PEO muscle . references
MT-DLOOP 298 C-G noncod - + control skeletal muscle . references
MT-DLOOP 303:315 C(7-8)TC(5) noncod + + multiple tumor types highly variable C tract "D310" references
MT-DLOOP 303:493 ~200 bp duplication- noncod - + aging muscle . references
MT-DLOOP 303:568 ~260 bp duplication & triplication- noncod - + multiple tumor types, aging muscle, myopathic muscle . references
MT-DLOOP 309 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 315 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 317 C-T noncod + - ovarian tumor . references
MT-DLOOP 318 T-C noncod - + POLG/PEO muscle . references
MT-DLOOP 320 C-T noncod - + POLG/PEO muscle . references
MT-DLOOP 324 C-G noncod - + POLG/MNGIE muscle . references
MT-DLOOP 325 C-T noncod + - thyroid tumor . references
MT-DLOOP 333 T-C noncod - + control skeletal muscle . references
MT-DLOOP 334 T-C noncod - + POLG/PEO muscle . references
MT-DLOOP 335 A-G noncod - + elderly Down's Syndrome fibroblasts . references
MT-DLOOP 368 A-G noncod - + elderly fibroblasts . references
MT-DLOOP 375 C-CC noncod + - colonic crypts . references
MT-DLOOP 383 T-TT noncod - + elderly fibroblasts . references
MT-DLOOP 385 A-G noncod - + Twinkle/PEO frontal cortex . references
MT-DLOOP 386 A-G noncod - + elderly fibroblasts . references
MT-DLOOP 405 T-del noncod - + Twinkle/PEO frontal cortex . references
MT-DLOOP 408 T-A noncod - + elderly muscle, POLG/PEO, Twinkle/PEO frontal cortex and muscle . references
MT-DLOOP 410 G-A noncod - + Twinkle/PEO eye muscle . references
MT-DLOOP 412 G-A noncod - + Twinkle/PEO eye muscle . references
MT-DLOOP 414 T-C noncod - + AD brains . references
MT-DLOOP 414 T-G noncod - + elderly fibroblasts, elderly muscle, POLG/PEO, Down's Syndrome, AD brains,oocytes . references
MT-DLOOP 415 A-G noncod - + Twinkle/PEO eye muscle . references
MT-DLOOP 426 A-G noncod - + elderly Down's Syndrome fibroblasts . references
MT-DLOOP 429 G-A noncod - + Twinkle/PEO eye muscle . references
MT-DLOOP 456 C-T noncod + - thyroid tumor . references
MT-DLOOP 460 T-A noncod - + elderly Down's Syndrome fibroblasts . references
MT-DLOOP 460 T-C noncod + + elderly Down's Syndrome fibroblasts, thyroid tumor . references
MT-DLOOP 462 C-T noncod + - thyroid tumor . references
MT-DLOOP 466 T-C noncod - + alcoholic fatty liver . references
MT-DLOOP 477 T-C noncod - + AD brains, ovarian tumor . references
MT-DLOOP 481 C-T noncod + - thyroid tumor . references
MT-DLOOP 486 C-T noncod - + elderly Down's Syndrome fibroblasts . references
MT-DLOOP 489 T-C noncod + - ovarian carcinoma . references
MT-DLOOP 497 C-T noncod + - thyroid tumor . references
MT-DLOOP 499 G-A noncod + - thyroid tumor . references
MT-DLOOP 507 T-A noncod - + Twinkle/PEO skeletal muscle . references
MT-DLOOP 514:523 (CA)(5-7) noncod + + ovarian carcinoma & control tissue, thyroid tumors variable CA repeat region references
MT-DLOOP 523:524 AC-del noncod - + Twinkle/PEO eye muscle . references
MT-DLOOP 538 A-G noncod - + Twinkle/PEO skeletal muscle . references
MT-DLOOP 540 A-G noncod - + Twinkle/PEO skeletal & eye muscle . references
MT-DLOOP 549 C-T noncod + - thyroid tumor . references
MT-DLOOP 556 A-G noncod - + Twinkle/PEO eye muscle . references
MT-DLOOP 559 C-T noncod - + Twinkle/PEO skeletal muscle . references
MT-DLOOP 564 G-A noncod - + colonic crypts . references
MT-DLOOP 564 G-A noncod - + Twinkle/PEO skeletal & eye muscle . references
MT-DLOOP 567 A-AC noncod - + Twinkle/PEO frontal cortex . references
MT-DLOOP 568 C(6)-C(8) noncod + - multiple tumor types . references
MT-TF:MT-TM 584:4442 3857 bp del multiple - + elderly muscle 3857-bp 'HSP' deletion references
MT-TF 586 G-A noncod - + colonic crypts . references
MT-TF 616 T-C noncod - + MNGIE fibroblasts . references
MT-RNR1 664 G-A noncod + - ovarian carcinoma . references
MT-RNR1 687 G-A noncod + - pancreatic cancer cell line . references
MT-RNR1 710 T-C noncod + - colorectal tumor . references
MT-RNR1 879 T-C noncod - + colonic crypts . references
MT-RNR1 943 G-A noncod + - colonic crypts . references
MT-RNR1 1040 C-T noncod . . MNGIE fibroblasts . references
MT-RNR1 1097 G-A noncod + - colonic crypts . references
MT-RNR1 1243 T-C noncod + - pancreatic cancer cell line . references
MT-RNR1 1289 G-C noncod + - colonic crypts . references
MT-RNR1 1401 G-A noncod + - ovarian carcinoma . references
MT-RNR1 1406 T-C noncod + - pancreatic cancer cell line . references
MT-RNR1 1586 G-A noncod - + colonic crypts . references
MT-RNR2 1676 A-G noncod + - pancreatic cancer cell line . references
MT-RNR2 1721 C-T noncod + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. references
MT-RNR2 1738 T-C noncod + - colorectal tumor . references
MT-RNR2 1831 G-A noncod - + colonic crypts . references
MT-RNR2 1952 T-C noncod + - ovarian carcinoma . references
MT-RNR2 1967 T-C noncod - + colorectal tumor . references
MT-RNR2 2015 G-A noncod + - pancreatic cancer cell line . references
MT-RNR2 2056 G-A noncod + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. references
MT-RNR2 2222 T-C noncod + - pancreatic cancer cell line . references
MT-RNR2 2233 T-A noncod . . MNGIE fibroblasts references
MT-RNR2 2275 T-C noncod - + colonic crypts . references
MT-RNR2 2299 T-A noncod - + colorectal tumor . references
MT-RNR2 2643 G-C noncod - + colonic crypts . references
MT-RNR2 2805 A-T noncod + - pancreatic cancer cell line xenograf, MNGIE fibroblasts . references
MT-RNR2 2815 G-A noncod - + colonic crypts . references
MT-RNR2 2905 A-G noncod + - pancreatic cancer cell line . references
MT-RNR2 2916 G-A noncod - + colonic crypts . references
MT-RNR2 2923 G-A noncod + - prostate tumor . references
MT-RNR2 2998 C-CT noncod + - lung tumor . references
MT-RNR2 3014 G-A noncod + - colonic crypts . references
MT-RNR2 3094 G-A noncod - + colonic crypts . references
MT-TL1 3232:3236 TAAG-T noncod - + elderly muscle 3-bp deletion references
MT-TL1 3243 A-G noncod + + elderly brain, elderly muscle, colon tumor . references
MT-TL1 3244 G-A noncod + + gastric carcinoma, lung tumor . references
MT-ND1 3308 T-C M-T + - colorectal tumor . references
MT-ND1 3323:3588 264 bp del multiple - + renal cell carcinoma 264-bp deletion, alternate position 3326:3591 references
MT-ND1 3357 G-A syn + - prostate tumor . references
MT-ND1 3386 T-C I-T - + MNGIE tissues references
MT-ND1 3394 T-C Y-H + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. references
MT-ND1 3421 G-A V-M + - pancreatic cancer cell line . references
MT-ND1 3434 A-G Y-C + - prostate tumor . references
MT-ND1 3480 A-G syn + - prostate tumor . references
MT-ND1 3505 A-G T-A + - pancreatic cancer cell line . references
MT-ND1 3526 G-A A-T + - thyroid tumor . references
MT-ND1 3566:3571 C(6)-C(7) frameshift + - colorectal tumor . references
MT-ND1 3594 C-T syn + - thyroid tumor . references
MT-ND1 3653 T-C I-T . . MNGIE fibroblasts . references
MT-ND1 3654 C-T syn + - pancreatic cancer cell line . references
MT-ND1 3670 G-A A-T + - pancreatic cancer cell line xenograft . references
MT-ND1 3910 G-A E-K + - thyroid tumor . references
MT-ND1 3918 G-A syn . . breast tumor . references
MT-ND1 3992 C-T T-M + - thyroid tumor . references
MT-ND1 4028 T-C I-T . . MNGIE fibroblasts . references
MT-ND1 4160 T-A L-H . . MNGIE fibroblasts . references
MT-ND1 4216 T-C Y-H + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. references
MT-TI 4312 C-T noncod + - thyroid tumor . references
MT-TQ 4370 C-T noncod - + MNGIE fibroblasts . references
MT-TQ:MT-CYB 4398:14822 10422 bp del multiple - + elderly muscle 10422-bp deletion references
MT-TQ 4399 T-C noncod + - colonic crypts . references
MT-TM 4421 G-A noncod - + elderly muscle . references
MT-TM 4446 G-A noncod - + colonic crypts . references
MT-TM 4460 T-C noncod - + elderly muscle . references
MT-ND2 4550 T-C syn + - colonic crypts . references
MT-ND2 4580 G-A syn + - pancreatic cancer cell line . references
MT-ND2 4613 A-G syn + - thyroid tumor . references
MT-ND2 4788 G-A G-Ter - + colonic crypts . references
MT-ND2 4811 A-G syn + - pancreatic cancer cell line . references
MT-ND2 4940 C-T syn + - thyroid tumor . references
MT-ND2 4985 A-G syn + - thyroid tumor . references
MT-ND2 4986 A-C T-P - + oral cancer . references
MT-ND2 4986 A-G T-A - + colonic crypts . references
MT-ND2 5026 A-G H-R - + oral cancer . references
MT-ND2 5132:5134 AAA-A frameshift + - skeletal muscle - myopathy . references
MT-ND2 5140 G-A S-N + - colonic crypts . references
MT-ND2 5164 G-A R-H - + colonic crypts . references
MT-ND2 5231 G-A syn + - endometrium control tissue Normal in paired tumor tissue references
MT-ND2 5298 A-G I-V + - papillary thyroid carcinoma . references
MT-ND2 5408 A-del frameshift + - papillary thyroid carcinoma . references
MT-TW 5517 T-C noncod . . MNGIE fibroblasts . references
MT-TA 5628 T-A noncod . . MNGIE tissues . references
MT-TA 5628 T-C noncod . . MNGIE fibroblasts . references
MT-TA 5633 C-T noncod + - thyroid tumor . references
MT-TC:MT-DLOOP 5788:16071 10282 bp del multiple - + elderly muscle 10282-bp deletion references
MT-TC 5814 T-C noncod - + MNGIE tissues . references
MT-TY 5843 A-G noncod + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. references
MT-TY 5885 T-del noncod - + CPEO muscle single nucleotide deletion references
MTNC5 5892 T-C noncod + - colonic crypts . references
MT-CO1 5918 T-C syn + - pancreatic cancer cell line . references
MT-CO1 5920 G-A W-Ter + - skeletal muscle - myopathy . references
MT-CO1 5949 G-A G-Ter - + prostate tumor . references
MT-CO1 5973 G-A A-T + - pancreatic cancer cell line . references
MT-CO1 5999 T-C syn + - pancreatic cancer cell line . references
MT-CO1 6047 A-G syn + - pancreatic cancer cell line . references
MT-CO1 6124 T-C M-T - + prostate tumor . references
MT-CO1 6146 A-G syn + - pancreatic cancer cell line . references
MT-CO1:MT-DLOOP 6173:16078 9904 bp del multiple - + elderly muscle 9904-bp deletion references
MT-CO1 6264 G-A G-Ter + - colorectal tumor . references
MT-CO1 6267 G-A A-T + - pancreatic cancer cell line . references
MT-CO1 6473 C-T syn + - thyroid tumor . references
MT-CO1 6650 A-C syn + - thyroid tumor . references
MT-CO1 6698 A-del frameshift + - colonic crypts . references
MT-CO1 6721 T-C M-T - + bone marrow, whole blood, platelets, granulocytes AISA (acquired idiopathic sideroblastic anemia) patient references
MT-CO1 6742 T-C I-T - + bone marrow, whole blood, platelets, granulocytes AISA patient references
MT-CO1 6852 G-A G-S - - colonic crypts . references
MT-CO1 6869 C-T syn + - pancreatic cancer cell line . references
MT-CO1 6924 C-T A-S - + prostate tumor . references
MT-CO1 6937 T-C I-T + - colonic crypts . references
MT-CO1 7013 G-A syn - + colonic crypts . references
MT-CO1 7053 G-A G-Ter + - colonic crypts . references
MT-CO1 7055 A-G syn . . MNGIE fibroblasts . references
MT-CO1 7065 G-A A-T + - colonic crypts . references
MT-CO1 7090 G-A W-Ter + - colonic crypts . references
MT-CO1 7103 C-T syn + - thyroid tumor . references
MT-CO1 7151 C-T syn + - pancreatic cancer cell line . references
MT-CO1 7440 T-C S-P . . MNGIE fibroblasts . references
MT-TS1 7476 C-T noncod + - thyroid hyperplasia . references
MT-TD 7521 G-A noncod + - thyroid tumor . references
MT-CO2 7627:8195 [AGCT](569)- stop codon + - thyroid tumor . references
MT-CO2 7631:8203 [AGCT](569)- del 191 aa + - thyroid tumor . references
MT-CO2 7775 G-A V-I + + colonic crypts, thyroid tumor . references
MT-CO2 7785 T-C I-T + - thyroid tumor . references
MT-CO2 7819 C-A syn + - thyroid tumor . references
MT-CO2 7842:13904 6063 bp del multiple - + aging liver 6063-bp deletion