MITOMAP: mtDNA Coding Region & RNA Sequence Variants (Supplemental data: excluded sequences)

_Last Edited: , _

The data in this table is derived from 867 GenBank sequences which have been removed from our core set of 47412 human mtDNA sequences with size greater than 15.4kbp. These excluded sequences are from three broad categories (1) tumor or abnormal tissue studies; (2) cell lines; or (3) ancient human remains. The variants listed here are those unique to these sequences and have not been found to date in our main sequence set. For full typing of these sequences, please view the Mitomaster results in “GB Sequences” link.

For more details about the current GenBank sequence set, please see http://www.mitomap.org/MITOMAP/GBFreqInfo

Locus Nucleotide Position Nucleotide Change Codon number Codon Position Amino Acid Change GB frequency Curated References
688 MT-RNR1 A-del - - rRNA 1 1
829 MT-RNR1 C-CC - - rRNA 1 1
941 MT-RNR1 G-A - - rRNA 1 1
1149 MT-RNR1 G-A - - rRNA 1 1
1345 MT-RNR1 G-A - - rRNA 1 1
1532 MT-RNR1 C-T - - rRNA 1 1
1535 MT-RNR1 T-del - - rRNA 1 1
1569 MT-RNR1 G-A - - rRNA 1 1
1664 MT-TV G-C - - tRNA 1 1
2160 MT-RNR2 A-T - - rRNA 1 1
2175 MT-RNR2 C-T - - rRNA 1 1
2300 MT-RNR2 G-A - - rRNA 1 1
2463 MT-RNR2 A-AA - - rRNA 1 1
2647 MT-RNR2 G-A - - rRNA 1 1
2647 MT-Hum G-A - - rRNA 1 1
2832 MT-RNR2 A-del - - rRNA 1 1
2940 MT-RNR2 A-del - - rRNA 1 1
3097 MT-RNR2 T-C - - rRNA 1 1
3392 MT-ND1 G-A 29 2 non-syn:G-D 1 1
3514 MT-ND1 C-T 70 1 non-syn:L-F 1 1
3571 MT-ND1 C-CC 89 1 frameshift 8 1
3580 MT-ND1 C-T 92 1 non-syn:P-S 1 1
3581 MT-ND1 C-T 92 2 non-syn:P-L 1 1
3851 MT-ND1 C-T 182 2 non-syn:A-V 1 1
3920 MT-ND1 C-T 205 2 non-syn:S-F 1 1
3949 MT-ND1 T-C 215 1 non-syn:Y-H 1 1
4036 MT-ND1 G-A 244 1 non-syn:G-TERM 2 1
4134 MT-ND1 A-G 276 3 syn:A-A 1 1
4138 MT-ND1 C-T 278 1 non-syn:P-S 1 1
4148 MT-ND1 G-A 281 2 non-syn:R-H 1 1
4159 MT-ND1 C-T 285 1 non-syn:L-F 1 1
4168 MT-ND1 C-T 288 1 non-syn:L-F 1 1
4222 MT-ND1 T-C 306 1 non-syn:S-P 1 1
4309 MT-TI G-A - - tRNA 1 1
4313 MT-TI T-del - - tRNA 3 1
4410 MT-TM C-T - - tRNA 1 1
4431 MT-TM C-T - - tRNA 1 1
4515 MT-ND2 G-A 16 1 non-syn:G-S 1 1
4560 MT-ND2 G-C 31 1 non-syn:V-L 1 1
4576 MT-ND2 A-G 36 2 non-syn:N-S 1 1
4650 MT-ND2 C-T 61 1 non-syn:L-F 1 1
4720 MT-ND2 G-A 84 2 non-syn:W-Term 1 1
4724 MT-ND2 C-T 85 3 syn:T-T 1 1
4753 MT-ND2 C-T 95 2 non-syn:S-L 1 1
4795 MT-ND2 C-T 109 2 non-syn:A-V 1 1
4831 MT-ND2 G-A 121 2 non-syn:G-D 1 1
4854 MT-ND2 C-T 129 1 non-syn:L-F 1 1
4891 MT-ND2 T-C 141 2 non-syn:I-T 1 1
4953 MT-ND2 A-G 162 1 non-syn:I-V 1 1
4971 MT-ND2 G-A 168 1 non-syn:G-S 1 1
4975 MT-ND2 G-A 169 2 non-syn:G-E 1 1
4996 MT-ND2 G-A 176 2 non-syn:R-H 1 1
5041 MT-ND2 T-C 191 2 non-syn:M-T 3 1
5106 MT-ND2 A-G 213 1 non-syn:T-A 1 1
5149 MT-ND2 C-T 227 2 non-syn:T-I 1 1
5185 MT-ND2 G-A 239 2 non-syn:W-Term 1 1
5229 MT-ND2 C-T 254 1 syn:L-L 1 1
5236 MT-ND2 C-T 256 2 non-syn:P-L 1 1
5569 MT-TW C-T - - tRNA 1 1
5623 MT-TA G-A - - tRNA 1 1
5668 MT-TN G-A - - tRNA 1 1
5713 MT-TN C-T - - tRNA 1 1
5746 MT-OLR G-GG - - non-coding 3 1
5890 MT-TY C-T - - tRNA 1 1
6206 MT-CO1 C-T 101 3 syn:S-S 1 1
6283 MT-CO1 C-T 127 2 non-syn:T-M 1 1
6419 MT-CO1 A-C 172 3 non-syn:K-N 1 1
6457 MT-CO1 T-C 185 2 non-syn:V-A 1 1
6600 MT-CO1 C-T 233 1 non-syn:H-Y 1 1
6714 MT-CO1 A-C 271 1 non-syn:M-L 1 1
6820 MT-CO1 C-T 306 2 non-syn:T-I 1 1
6847 MT-CO1 C-T 315 2 non-syn:P-L 1 1
6850 MT-CO1 C-T 316 2 non-syn:T-I 1 1
6999 MT-CO1 G-C 366 1 non-syn:V-L 1 1
7000 MT-CO1 T-C 366 2 non-syn:V-A 1 1
7025 MT-CO1 A-C 374 3 syn:V-V 1 1
7044 MT-CO1 C-G 381 1 non-syn:L-V 1 1
7190 MT-CO1 C-T 429 3 syn:H-H 1 1
7227 MT-CO1 G-A 442 1 non-syn:D-N 1 1
7297 MT-CO1 T-G 465 2 non-syn:V-G 1 1
7426 MT-CO1 C-T 508 2 non-syn:P-L 1 1
7441 MT-CO1 C-A 513 2 non-syn:S-Y 1 1
7441 MT-CO1 C-T 513 2 non-syn:S-F 1 1
7487 MT-TS1 C-T - - tRNA 1 1
7592 MT-CO2 C-T 3 1 non-syn:H-Y 1 1
7758 MT-CO2 C-T 58 2 non-syn:A-V 1 1
7835 MT-CO2 C-T 84 1 non-syn:L-F 1 1
7965 MT-CO2 T-C 127 2 non-syn:F-S 1 1
8370 MT-ATP8 C-T 2 2 non-syn:P-L 1 1
8596 MT-ATP6 A-T 24 1 non-syn:I-F 1 1
8598 MT-ATP6 T-A 24 3 non-syn:I-M 1 1
8601 MT-ATP6 A-T 25 3 syn:L-L 1 1
8602 MT-ATP6 T-A 26 1 non-syn:F-I 1 1
8608 MT-ATP6 CC-del 28 1 frameshift 1 1
8621 MT-ATP6 C-T 32 2 non-syn:P-L 1 1
8622 MT-ATP6 C-A 32 3 syn:P-P 1 1
8694 MT-ATP6 A-G 56 3 syn:Q-Q 1 1
8697 MT-ATP6 G-C 57 3 non-syn:M-I 1 1
8873 MT-ATP6 G-A 116 2 non-syn:G-D 1 1
8918 MT-ATP6 A-G 131 2 non-syn:Q-R 1 1
8926 MT-ATP6 C-T 134 1 non-syn:P-S 1 1
9001 MT-ATP6 C-T 159 1 non-syn:R-C 1 1
9185 MT-ATP6 T-A 220 2 non-syn:L-H 1 1
9216 MT-CO3 C-T 4 1 non-syn:Q-TERM 1 1
9264 MT-CO3 G-A 20 1 non-syn:G-TERM 1 1
9282 MT-CO3 C-T 26 1 syn:L-L 1 1
9364 MT-CO3 C-T 53 2 non-syn:T-I 1 1
9477 MT-CO3 G-del 91 1 frameshift 1 1
9478 MT-CO3 T-A 91 2 non-syn:V-D 1 1
10116 MT-ND3 AT-del 20 1 frameshift 1 1
10573 MT-ND4L G-A 35 2 non-syn:G-E 1 1
10657 MT-ND4L T-G 63 2 non-syn:M-Term 1 1
10658 MT-ND4L A-T 63 3 non-syn:M-I 1 1
10684 MT-ND4L C-G 72 2 non-syn:A-G 1 1
10689 MT-ND4L G-A 74 1 non-syn:G-S 1 1
10690 MT-ND4L G-A 74 2 non-syn:G-D 1 1
10937 MT-ND4 C-T 60 1 non-syn:P-S 1 1
10952 MT-ND4 C-T 65 1 non-syn:L-F 1 1
10952 MT-ND4 C-CC 65 1 frameshift 1 1
10977 MT-ND4 T-A 73 2 non-syn:L-Q 1 1
11032 MT-ND4 A-del 91 3 frameshift 7 1
11084 MT-ND4 AC-del 109 1 frameshift 1 1
11177 MT-ND4 C-A 140 1 non-syn:P-T 1 1
11186 MT-ND4 C-T 143 1 syn:L-L 1 1
11195 MT-ND4 G-A 146 1 non-syn:G-S 1 1
11403 MT-ND4 G-A 215 2 non-syn:W-Term 1 1
11456 MT-ND4 G-A 233 1 non-syn:A-T 1 1
11475 MT-ND4 G-A 239 2 non-syn:G-D 1 1
11520 MT-ND4 C-T 254 2 non-syn:T-M 1 1
11602 MT-ND4 C-T 281 3 syn:D-D 1 1
11613 MT-ND4 T-C 285 2 non-syn:L-P 1 1
11642 MT-ND4 G-A 295 1 non-syn:A-T 1 1
11889 MT-ND4 G-A 377 2 non-syn:G-E 1 1
11935 MT-ND4 T-G 392 3 syn:T-T 1 1
12042 MT-ND4 C-T 428 2 non-syn:P-L 1 1
12056 MT-ND4 G-A 433 1 non-syn:E-K 1 1
12242 MT-TS2 A-C - - tRNA 1 1
12417 MT-ND5 C-T 27 3 syn:N-N 1 1
12508 MT-ND5 G-A 58 1 non-syn:D-N 1 1
12555 MT-ND5 A-G 73 3 syn:T-T 3 1
12601 MT-ND5 T-C 89 1 non-syn:F-L 1 1
12607 MT-ND5 C-T 91 1 non-syn:P-S 1 1
12731 MT-ND5 T-C 132 2 non-syn:V-A 1 1
12797 MT-ND5 T-C 154 2 non-syn:L-P 1 1
12875 MT-ND5 T-C 180 2 non-syn:I-T 1 1
13235 MT-ND5 A-AT 300 2 frameshift 1 1
13271 MT-ND5 T-C 312 2 non-syn:L-P 1 1
13374 MT-ND5 C-T 346 3 syn:I-I 1 1
13579 MT-ND5 G-A 415 1 non-syn:A-T 1 1
13846 MT-ND5 C-T 504 1 non-syn:L-F 1 1
13915 MT-ND5 G-A 527 1 non-syn:G-TERM 1 1
14339 MT-ND6 A-G 112 2 non-syn:V-A 3 1
14418 MT-ND6 C-T 86 1 non-syn:V-I 1 1
14607 MT-ND6 G-A 23 1 non-syn:P-S 1 1
14623 MT-ND6 C-CC 17 3 frameshift 1 1
14656 MT-ND6 A-G 6 3 syn:F-F 1 1
14773 MT-CYB C-T 9 3 syn:P-P 1 1
14792 MT-CYB C-G 16 1 non-syn:H-D 1 1
14859 MT-CYB G-T 38 2 non-syn:G-V 1 1
14896 MT-CYB C-T 50 3 syn:F-F 1 1
15252 MT-CYB C-T 169 2 non-syn:S-L 1 1
15557 MT-CYB G-A 271 1 non-syn:E-K 1 1
15692 MT-CYB ATA-del 316 1 frameshift 2 1
15783 MT-CYB C-T 346 2 non-syn:P-L 1 1
15813 MT-CYB T-G 356 2 non-syn:V-G 2 1
15843 MT-CYB T-C 366 2 non-syn:M-T 1 1
15961 MT-TP G-A - - tRNA 1 1

Topic revision: r8 - 10 Mar 2019, ShipingZhang

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