Table 1 Somatic mtDNA mutations found in human endometrial carcinomas
From: High frequency of mitochondrial genome instability in human endometrial carcinomas
Code no. | Gene | Location | Mutation type | Wild type a | Normal | Tumour |
U9 | D-loop | 289–346 | Deletion | Normal length | Normal length | 50-bp deletion |
G12 | D-loop | 152 | Point mutation | T | T | C |
U34 | D-loop | 251 | Point mutation | G | G | G, A |
U10 | D-loop | 294 | Point mutation | T | T | T, C |
U27 | 12S RNA | 650 | Point mutation | T | T | T, C |
U59 | 12S RNA | 817 | Point mutation | G | G | A |
G29 | 12S RNA | 879 | Point mutation | T | T | C |
U44 | 16S RNA | 3163 | Point mutation | G | G | A |
U111 | D-loop | 514–523 | mtMSI | (CA)5 | (CA)4 | (CA)5 |
U24 | 12S RNA | 956–960 | mtMSI | C5 | C5 | C4, C5 |
U32 | 12S RNA | 956–960 | mtMSI | C5 | C6 | C6, C7 |
U120 | 12S RNA | 956–960 | mtMSI | C5 | C6 | C7 |
U27 | 12S RNA | 956–965 | mtMSI | CCCCCTCCCC | C11, C12, C13, C14 | C12, C13, C14 |
U10 | D-loop | 303–309 | mtMSI | C7 | C8, C9 | C8 |
U12 | D-loop | 303–309 | mtMSI | C7 | C7, C8, C9 | C8 |
U24 | D-loop | 303–309 | mtMSI | C7 | C8, C9 | C9, C10 |
U42 | D-loop | 303–309 | mtMSI | C7 | C7, C8, C9 | C8, C9, C10 |
U44 | D-loop | 303–309 | mtMSI | C7 | C7, C8, C9 | C8, C9, C10, C11 |
U46 | D-loop | 303–309 | mtMSI | C7 | C7, C8, C9 | C8, C9, C10, C11 |
U52 | D-loop | 303–309 | mtMSI | C7 | C7, C8, C9 | C8, C9, C10 |
U55 | D-loop | 303–309 | mtMSI | C7 | C8, C9, C10 | C9, C10 |
U56 | D-loop | 303–309 | mtMSI | C7 | C8, C9 | C8 |
U109 | D-loop | 303–309 | mtMSI | C7 | C8, C9, C10, C11 | C8, C9 |
U120 | D-loop | 303–309 | mtMSI | C7 | C8, C9, C10 | C8 |
U125 | D-loop | 303–309 | mtMSI | C7 | C8, C9, C10 | C8, C9 |
G24 | D-loop | 303–309 | mtMSI | C7 | C7, C8, C9 | C7, C8 |
G27 | D-loop | 303–309 | mtMSI | C7 | C7 | C7, C8 |
G35 | D-loop | 303–309 | mtMSI | C7 | C9, C10 | C9, C10, C11 |
G81 | D-loop | 303–309 | mtMSI | C7 | C8, C9, C10 | C9, C10, C11 |
U9 | D-loop | 16184–16193 | mtMSI | CCCCCTCCCC | C13 | C14 |
U25 | D-loop | 16184–16193 | mtMSI | CCCCCTCCCC | C11 | C12 |
U37 | D-loop | 16184–16193 | mtMSI | CCCCCTCCCC | C12 | C10, C11, C12 |
U44 | D-loop | 16184–16193 | mtMSI | CCCCCTCCCC | C10 | C10, C11, C12 |
U51 | D-loop | 16184–16193 | mtMSI | CCCCCTCCCC | C11, C12, C13 | C12, C13, C14 |
U58 | D-loop | 16184–16193 | mtMSI | CCCCCTCCCC | C12 | C11 |
G29 | D-loop | 16184–16193 | mtMSI | CCCCCTCCCC | C7 | C7, C8, C9, C10 |