Mitochondrial DNA variants in bone marrow specimens of healthy controls
| No. . | Age, y/sex . | Polymorphism . | Mutation . | Affected mtDNA gene . | Amino acid change . |
|---|---|---|---|---|---|
| 1 | 38/F | 8602T>C | ATPase 6 | Phe→Leu | |
| 14212T>C | ND6 | No | |||
| 16326A>G | HV1 | ||||
| 16360C>T | HV1 | ||||
| 2 | 37/M | 4688T>C | ND2 | No | |
| 7022T>C | COI | No | |||
| 8697G>A | ATPase 6 | No | |||
| 9214A>G | COIII | His→Arg | |||
| 10463T>C | tRNA arginine | ||||
| 11812A>G | ND4 | No | |||
| 13368G>A | ND5 | No | |||
| 13965T>C | ND5 | No | |||
| 14233A>G | ND6 | No | |||
| 15607A>G | CYTB | No | |||
| 15927G>A | tRNA threonine | ||||
| 16294C>T | HV1 | ||||
| 16296C>T | HV1 | ||||
| 3 | 41/F | 150C>T | HV2 | ||
| 723A>G | 12S rRNA | ||||
| 1721C>T | 16S rRNA | ||||
| 3197T>C | 16S rRNA | ||||
| 3861A>G | ND1 | No | |||
| 5836A>G | tRNA tyrosine | ||||
| 7768A>G | COII | No | |||
| 10262A>G | ND3 | No | |||
| 13017A>G | ND5 | No | |||
| 13617T>C | ND5 | No | |||
| 13637A>G | ND5 | Glu→Arg | |||
| 14182T>C | ND6 | No | |||
| 16270C>T | HV1 | ||||
| 4 | 41/M | 150C>T | HV2 | ||
| 7669C>T | COII | No | |||
| 5 | 42/M | 1018G>A | 12S rRNA | ||
| 2416T>C | 16S rRNA | ||||
| 2789C>T | 16S rRNA | ||||
| 3594C>T | ND1 | No | |||
| 4104A>G | ND1 | No | |||
| 5022A>C | ND2 | Thr→Pro | |||
| 6663A>G | COI | Ile→Val | |||
| 7175T>C | COI | No | |||
| 7256C>T | COI | No | |||
| 7274C>T | COI | No | |||
| 7771A>G | COII | No | |||
| 8155G>A | COII | No | |||
| 8026G>A | COII | No | |||
| 9221A>G | COIII | No | |||
| 10115T>C | ND3 | No | |||
| 10799C>T | ND4 | No | |||
| 11944T>C | ND4 | No | |||
| 12693A>G | ND5 | No | |||
| 13650C>T | ND5 | No | |||
| 13803A>G | ND5 | No | |||
| 14566A>G | ND6 | No | |||
| 15884G>A | HV1 | ||||
| 16390G>A | NC | ||||
| 6 | 48/M | 215A>G | HV2 | ||
| 520C>CAC | NC | ||||
| 1888G>A | 16S rRNA | ||||
| 2141T>C | 16S rRNA | ||||
| 8697G>A | ATPase 6 | No | |||
| 9117T>C | ATPase 6 | No | |||
| 10463T>C | tRNA arginine | ||||
| 11719G>A | ND4 | No | |||
| 12741C>T | ND5 | No | |||
| 13368G>A | ND5 | No | |||
| 13965T>C | ND5 | No | |||
| 13966A>G | ND5 | Thr→Ala | |||
| 15607A>G | CYTB | No | |||
| 16296C>T | HV1 | ||||
| 16324T>C | HV1 | ||||
| 7 | 42/M | 89T>C | HV2 | ||
| 101G>A | HV2 | ||||
| 106G>C | HV2 | ||||
| 198C>T | HV2 | ||||
| 235A>G | HV2 | ||||
| 309C>T | HV2 | ||||
| 521-522delAC | NC | ||||
| 663A>G | 12S rRNA | ||||
| 1736A>G | 16S rRNA | ||||
| 4248T>C | ND1 | No | |||
| 4824A>G | ND2 | Thr→Ala | |||
| 5460G>A | ND2 | No | |||
| 6734G>A | COI | No | |||
| 6794A>G | COI | No | |||
| 7960A>G | COI | No | |||
| 8027G>A | COII | Ala→Thr | |||
| 12007G>A | ND4 | No | |||
| 16111C>T | HV1 | ||||
| 16290C>T | HV1 | ||||
| 16319G>A | HV1 | ||||
| 16360C>T | HV1 | ||||
| 8 | 78/M | 3197T>C | 16S rRNA | ||
| 5495T>C | ND2 | No | |||
| 11467A>G | ND4 | No | |||
| 12372G>A | ND5 | No | |||
| 13617T>C | ND5 | No | |||
| 15218A>G | CYTB | Thr→Ala | |||
| 16142C>T | HV1 | ||||
| 16210A>G | HV1 | ||||
| 16256C>T | HV1 | ||||
| 16270C>T | HV1 | ||||
| 16399A>G | NC |
| No. . | Age, y/sex . | Polymorphism . | Mutation . | Affected mtDNA gene . | Amino acid change . |
|---|---|---|---|---|---|
| 1 | 38/F | 8602T>C | ATPase 6 | Phe→Leu | |
| 14212T>C | ND6 | No | |||
| 16326A>G | HV1 | ||||
| 16360C>T | HV1 | ||||
| 2 | 37/M | 4688T>C | ND2 | No | |
| 7022T>C | COI | No | |||
| 8697G>A | ATPase 6 | No | |||
| 9214A>G | COIII | His→Arg | |||
| 10463T>C | tRNA arginine | ||||
| 11812A>G | ND4 | No | |||
| 13368G>A | ND5 | No | |||
| 13965T>C | ND5 | No | |||
| 14233A>G | ND6 | No | |||
| 15607A>G | CYTB | No | |||
| 15927G>A | tRNA threonine | ||||
| 16294C>T | HV1 | ||||
| 16296C>T | HV1 | ||||
| 3 | 41/F | 150C>T | HV2 | ||
| 723A>G | 12S rRNA | ||||
| 1721C>T | 16S rRNA | ||||
| 3197T>C | 16S rRNA | ||||
| 3861A>G | ND1 | No | |||
| 5836A>G | tRNA tyrosine | ||||
| 7768A>G | COII | No | |||
| 10262A>G | ND3 | No | |||
| 13017A>G | ND5 | No | |||
| 13617T>C | ND5 | No | |||
| 13637A>G | ND5 | Glu→Arg | |||
| 14182T>C | ND6 | No | |||
| 16270C>T | HV1 | ||||
| 4 | 41/M | 150C>T | HV2 | ||
| 7669C>T | COII | No | |||
| 5 | 42/M | 1018G>A | 12S rRNA | ||
| 2416T>C | 16S rRNA | ||||
| 2789C>T | 16S rRNA | ||||
| 3594C>T | ND1 | No | |||
| 4104A>G | ND1 | No | |||
| 5022A>C | ND2 | Thr→Pro | |||
| 6663A>G | COI | Ile→Val | |||
| 7175T>C | COI | No | |||
| 7256C>T | COI | No | |||
| 7274C>T | COI | No | |||
| 7771A>G | COII | No | |||
| 8155G>A | COII | No | |||
| 8026G>A | COII | No | |||
| 9221A>G | COIII | No | |||
| 10115T>C | ND3 | No | |||
| 10799C>T | ND4 | No | |||
| 11944T>C | ND4 | No | |||
| 12693A>G | ND5 | No | |||
| 13650C>T | ND5 | No | |||
| 13803A>G | ND5 | No | |||
| 14566A>G | ND6 | No | |||
| 15884G>A | HV1 | ||||
| 16390G>A | NC | ||||
| 6 | 48/M | 215A>G | HV2 | ||
| 520C>CAC | NC | ||||
| 1888G>A | 16S rRNA | ||||
| 2141T>C | 16S rRNA | ||||
| 8697G>A | ATPase 6 | No | |||
| 9117T>C | ATPase 6 | No | |||
| 10463T>C | tRNA arginine | ||||
| 11719G>A | ND4 | No | |||
| 12741C>T | ND5 | No | |||
| 13368G>A | ND5 | No | |||
| 13965T>C | ND5 | No | |||
| 13966A>G | ND5 | Thr→Ala | |||
| 15607A>G | CYTB | No | |||
| 16296C>T | HV1 | ||||
| 16324T>C | HV1 | ||||
| 7 | 42/M | 89T>C | HV2 | ||
| 101G>A | HV2 | ||||
| 106G>C | HV2 | ||||
| 198C>T | HV2 | ||||
| 235A>G | HV2 | ||||
| 309C>T | HV2 | ||||
| 521-522delAC | NC | ||||
| 663A>G | 12S rRNA | ||||
| 1736A>G | 16S rRNA | ||||
| 4248T>C | ND1 | No | |||
| 4824A>G | ND2 | Thr→Ala | |||
| 5460G>A | ND2 | No | |||
| 6734G>A | COI | No | |||
| 6794A>G | COI | No | |||
| 7960A>G | COI | No | |||
| 8027G>A | COII | Ala→Thr | |||
| 12007G>A | ND4 | No | |||
| 16111C>T | HV1 | ||||
| 16290C>T | HV1 | ||||
| 16319G>A | HV1 | ||||
| 16360C>T | HV1 | ||||
| 8 | 78/M | 3197T>C | 16S rRNA | ||
| 5495T>C | ND2 | No | |||
| 11467A>G | ND4 | No | |||
| 12372G>A | ND5 | No | |||
| 13617T>C | ND5 | No | |||
| 15218A>G | CYTB | Thr→Ala | |||
| 16142C>T | HV1 | ||||
| 16210A>G | HV1 | ||||
| 16256C>T | HV1 | ||||
| 16270C>T | HV1 | ||||
| 16399A>G | NC |
A indicates adenine; C, cytosine; G, guanine; T, thymine; Ala, alanine; Arg, arginine; Glu, glutamic acid; His, histidine; Ile, isoleucine; Leu, leucine; Phe, phenylalanine; Pro, proline; Thr, threonine; Val, valine; ATPase, ATP synthase; CO, cytochrome c oxidase; CYTB, cytochrome b; HV, hypervariable segment; NC, noncoding region; and ND, NADH dehydrogenase.