Table 1.
Classification of mt-LSU rRNA mutations according to their predicted disruptive potential on ribosomal function.
The table includes all mitochondrial mutations meeting the criteria described in Methods.
| Variation | Canonical base pair partner (H. sapiens) | Bacterial equivalent | Canonical base pair partner (bacterial) | Tunnel | |
|---|---|---|---|---|---|
| NEE | |||||
| 122G > A | m.1792G > A | 115C | G468 | C461 | Y |
| 161G > A | m.1831G > A | 169C | C535 | G558 | |
| 216G > A | m.1886G > A | U606 | |||
| 222A > G | m.1892A > G | ||||
| 235C > A | m.C1905C > A | C673 | Y | ||
| 243G > A | m.1913G > A | 336C | G681 | C796 | Y |
| 270A > G | m.1940A > G | 264U | C730 | G702 | |
| 282U > C | m.T1952T > C | 295A | G742 | C755 | |
| 297U > C | m.1967T > C | 280U | U757 | U740 | |
| 320G > A | m.1990G > A | G780 | Y | ||
| 334G > A | m.2004G > A | 245C | 794 | 683 | Y |
| 337U > C | m.2007T > C | 242A | C797 | G680 | Y |
| 345G > A | m.2015G > A | G805 | Y | ||
| 404delA | m.2074delA | ||||
| 409C > U | m.2079C > T | ||||
| 413U > G | m.2083T > G | ||||
| 449 3T > 4T | m.2119 3T > 4T | 432A | U967 | G950 | |
| 451G > A | m.2121G > A | 430C | G969 | C948 | |
| 478–479 dupAG | m.2148–2149 dupAG | 582C & 583U | G997 & C998 | G1157 & C1158 | |
| 480 delU | m.2150 delT | ? | U999 | A1155 | |
| 481 delA | m.2151 delA | A1000 | |||
| 605U > C | m.2275T > C | 620A | U1199 | A1246 | |
| 880A > U | m.2550A > T | G1839 | |||
| 948U > C | m.2618T > C | U1955 | |||
| 973G > C | m.2643G > C | A1980 | C1771 | ||
| 974A > G | m.2644A > G | A1981 | |||
| 994U > C | m.2664T > C | 793A | C2001 | G1659 | |
| 1028G > A | m.2698G > A | G2035 | Y | ||
| 1135A > U | m.2805A > T | 1072U | A2241 | U2079 | |
| 1283U > C | m.2953T > C | 1301A | C2466 | G2484 | |
| 1328 InsU | m.2998 InsT | U2511 | |||
| 1344G > A | m.3014G > A | 1353C | C2527 | G2536 | |
| 1362G > A | m.3032G > A | 1337C | G2545 | C2520 | |
| 1384G > A | m.3054G > A | 1334C | G2567 | C2517 | |
| 1490A > U | m.3160A > T | ||||
| 1535C > U | m.3205C > T | ||||
| Unlikely | |||||
| 34U > C | m.1704T > C | ||||
| 253C > U | m.1923C > T | 311G | C691 | G771 | |
| 568A > G | m.2238A > G | ||||
| 677C > U | m.2347C > T | 696G | |||
| 1011G > A | m.2681G > A | 157C | G2018 | C531 | |
| 1433C > U | m.3103C > U | 1046G | C2616 | G2053 | |
| Undetermined | |||||
| 399U > G | m.2069T > G | ||||
| 551C > U | m.2221C > T | ||||
| 1114A > C | m.2784A > C | ||||
| 1120 InsT | m.2790 InsT | ||||
| 1214C > U | m.2884C > T | ||||
| Likely | |||||
| 629U > A | m.2299T > A | U1255 | |||
| 875U > C | m.2545T > C | U1834 | |||
| 889U > G | m.2559T > G | ||||
| 923G > A | m.2593G > A | G1930 | |||
| 1169C > A | m.2839C > A | 1149G | C2275 | G2255 | |
| 1253G > A | m.2923G > A | 1066C | G2436 | C2073 | |
| 1328U > C | m.2998T > C | U2511 | |||
| 1409G > A | m.3079G > A | 1418C | G2592 | C2601 | |
| 1412G > C | m.3082G > C | G2595 | |||
| 1420G > A | m.3090G > A | 1408C | G2603 | C2591 | |
| 1423C > G | m.3093C > G | 1405G | C2606 | G2588 | |
| 1424G > A | m.3094G > A | G2607 | |||
| Expectedly | |||||
| 1010U > C | m.2680T > C | 636A | U2017 | A1262 | Y |
| 1145G > A | m.2815G > A | G2251 | |||
| 1146G > A | m.2816G > A | G2252 | |||
| 1398G > A | m.3068G > A | G2581 | |||
| Proven | |||||
| 173U > C | m.1843T > C | 1026A | U562 | A2033 | |