Table 3 Somatic nuclear DNA mutations in nuclear encoded mitochondrial and metabolic genes in TKCC pancreatic tumours (n = 12)

TKCC-02

TRIT1

1

40319722

Nonsense

G

A

G

novel

G

G

G > A

R112*

TKCC-03

None detected

TKCC-04

MRPS21

1

150266837

Silent

G

C

G

novel

G

G

113G > C

G17G

TP53

17

7578406

Missense

C

T

T

rs28934578

C

C

524C > T

R175H

ACACA

17

35615179

Missense

C

A

C

novel

C

C

2099C > A

R539S

CPT1C

19

50203981

Missense

G

A

G

novel

G

G

694G > A

A108T

PIK3CA

3

178952085

Missense

A

A

T

rs121913279

A

A

3297A > T

H1047L

PDHA2

4

96761551

Missense

T

C

T

novel

T

T

313 T > C

F84L

TKCC-07

None detected

TKCC-09

AKT3

1

243736250

Missense

T

C

T

novel

T

T

863 T > C

K266R

YME1L1

10

27437884

Missense

T

G

T

novel

T

T

301 T > G

Q40P

ADCK4

19

41208536

Missense

G

A

A

novel

G

G

1164G > A

R288C

TKCC-10

None detected

TKCC-15-LO

MTCP1

X

154293944

Missense

G

A

G

novel

G

G

G > A

R76C

TKCC-16-LO

HMGCL

1

24143254

Missense

C

A

C

novel

C

C

303C > A

D87Y

ADCK4

19

41198257

Missense

C

C

G

novel

C

C

1620C > G

E440Q

AGXT2

5

35013131

Silent

C

C

T

novel

C

C

1317C > T

A327A

TKCC-17-LO

TP53

17

7578553

Splice Site

T

C

C

novel

T

T

377 T > C

Y126C

TKCC-18-LO

TARS2

1

150477113

Missense

C

C

T

novel

C

C

C > T

A575V

TKCC-19-LO

None detected

TKCC-26-LO

LDHB

12

21788484

Missense

C

A

C

novel

C

C

C > A

D333Y

ADSL

22

40676075

Silent

G

A

G

novel

G

G

G > A