Nucleotide sequence changes of mtDNA control region from aggregate cells
Donor (age, y/sex) and polymorphism . | Affected mtDNA gene . |
|---|---|
| 1 (47/F) | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 16192C>T | HV1, 7S |
| 16270C>T | HV1, 7S |
| 2 (38/F) | |
| 73A>G | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 478A>G† | |
| 16093T>G | HV1 |
| 16158A>G | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16183A>C | HV1, 7S |
| 16189T>C (12C) | HV1, 7S |
| 16219A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| 3 (43/M) | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 152T>C | HV2, 7S, OH |
| 195T>C | HV2, OH |
| 263A>G | HV2, OH |
| 9CT6C*, 8CT6C* | HV2, OH, CSB2 |
| 514delC | — |
| 515delA | — |
| 16223C>T | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16294C>T | HV1, 7S |
| 16390G>A | 7S |
| 4 (34/M) | |
| 93A>G | HV2, 7S |
| 95A>C | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 189A>G | HV2, 7S, OH |
| 236T>C | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 247G>A | HV2, OH, TFB1 |
| 263A>G | HV2, OH |
| 514delC | — |
| 515delA | — |
| 16093T>C | HV1 |
| 16129G>A | HV1, 7S |
| 16148C>T | HV1, 7S |
| 16168C>T | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16187C>T | HV1, 7S |
| 16188C>G | HV1, 7S |
| 16189T>C | HV1, 7S |
| 16223C>T | HV1, 7S |
| 16230A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16293A>G | HV1, 7S |
| 16311T>C | HV1, 7S |
| 16320C>T | HV1, 7S |
| 5 (54/M) | |
| 73A>G | HV2, 7S |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 514delC | — |
| 515delA | — |
| 16126T>C | HV1, 7S |
| 16294C>T | HV1, OH |
| 16296C>T | HV1, OH |
| 16519T>C | 7S |
| 6 (34/F) | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 517A>G† | — |
| 16270C>T | HV1, 7S |
| 16292C>T | HV1, 7S |
| 16362T>C | HV1, 7S |
Donor (age, y/sex) and polymorphism . | Affected mtDNA gene . |
|---|---|
| 1 (47/F) | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 16192C>T | HV1, 7S |
| 16270C>T | HV1, 7S |
| 2 (38/F) | |
| 73A>G | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 478A>G† | |
| 16093T>G | HV1 |
| 16158A>G | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16183A>C | HV1, 7S |
| 16189T>C (12C) | HV1, 7S |
| 16219A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| 3 (43/M) | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 152T>C | HV2, 7S, OH |
| 195T>C | HV2, OH |
| 263A>G | HV2, OH |
| 9CT6C*, 8CT6C* | HV2, OH, CSB2 |
| 514delC | — |
| 515delA | — |
| 16223C>T | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16294C>T | HV1, 7S |
| 16390G>A | 7S |
| 4 (34/M) | |
| 93A>G | HV2, 7S |
| 95A>C | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 189A>G | HV2, 7S, OH |
| 236T>C | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 247G>A | HV2, OH, TFB1 |
| 263A>G | HV2, OH |
| 514delC | — |
| 515delA | — |
| 16093T>C | HV1 |
| 16129G>A | HV1, 7S |
| 16148C>T | HV1, 7S |
| 16168C>T | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16187C>T | HV1, 7S |
| 16188C>G | HV1, 7S |
| 16189T>C | HV1, 7S |
| 16223C>T | HV1, 7S |
| 16230A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16293A>G | HV1, 7S |
| 16311T>C | HV1, 7S |
| 16320C>T | HV1, 7S |
| 5 (54/M) | |
| 73A>G | HV2, 7S |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 514delC | — |
| 515delA | — |
| 16126T>C | HV1, 7S |
| 16294C>T | HV1, OH |
| 16296C>T | HV1, OH |
| 16519T>C | 7S |
| 6 (34/F) | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 517A>G† | — |
| 16270C>T | HV1, 7S |
| 16292C>T | HV1, 7S |
| 16362T>C | HV1, 7S |
HV2 indicates hypervariable segment 2; 7S, 7S DNA; OH, H-strand origin; CSB2, conserved sequence block II; HV1, hypervariable segment 1; TAS, termination-association sequence; TFB1, mitochondrial transcription factor 1 binding site; and —, not applicable.
Homopolymeric C tract localized between nucleotide 303 and 315 (eg, 8CT6C defined CCCCCCCCTCCCCCC).
New mtDNA polymorphisms (not listed in MitoMap database).