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

  1. Table entries in bold font indicate the predominant sequence variants in heteroplasmic mixtures.
  2. aWild type indicates the nucleotide(s) in the Revised Cambridge reference sequence (GenBank NC_001807).