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Table 2 Mitochondrial DNA mutations

From: Mitochondrial DNA sequencing demonstrates clonality of peritoneal implants of borderline ovarian tumors

Sample

Mitochondrial DNA

Mutations

Mitochondrial DNA

mutations localization

Mutation type

Amino Acid substitution

Gene

Variability

DS

B1

m.4810G >A

BOT

Nonsense

W114X

MT-ND2

0.0

-

m.15570T >C

BOT + PI

Missense

L275P

MT-CYB

0.0

0.892

B2

m.3428G >A

BOT

Missense

G41D

MT-ND1

0.0

0.909

m.15219insA

BOT

Frameshift

-

MT-CYB

0.0

-

B3

m.11984T >C

BOT + PI

Missense

Y409H

MT-ND4

0.002

0.764

B4

m.3352G >A

BOT

Missense

A16T

MT-ND1

0.0

0.827

m.15449T >C

BOT + PI

Missense

F235L

MT-CYB

0.00642

0.088

m.16189T >C

BOT + PI

SNP

-

MT-D-loop

0.767

-

B5

m.310insC

BOT

Insertion

-

MT-D-loop

0.215

-

m.310delCC

PI

Deletion

-

MT-D-loop

0.215

-

  1. All mitochondrial DNA mutations reported in the table are tumor-specific and heteroplasmic
  2. Abbreviations: BOT Borderline Ovarian Tumor, PI Peritoneal Implant, SNP Single Nucleotide Polymorphism, DS Disease Score