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Table 2 mtDNA variants in 1 Han Chinese subject (II-2) with hypertension and 1 Han Chinese control subject

From: Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGlngenes

Gene

Position

Replacement

Conservation (H/M/B/X)*

rCRS†

II-2

Control

Previously reported‡

Amino acid change

D-loop

73

A to G

 

A

G

G

Y

 
 

152

T to C

 

T

C

C

Y

 
 

263

A to G

 

A

G

G

Y

 
 

310

T to C

 

T

C

C

Y

 
 

489

T to C

 

T

C

C

Y

 

12SrRNA

1382

A to C

A/G/G/C

A

C

C

Y

rRNA

 

1438

A to G

A/A/C/A

A

G

G

Y

rRNA

16SrRNA

2706

A to G

A/G/G/A

A

G

G

Y

rRNA

 

3010

G to A

G/T/G/A

G

A

A

Y

rRNA

ND1

3975

C to T

C/C/A/C

C

T

C

Y

syn

 

4260

C to T

C/M/C/T

C

T

T

Y

syn

tRNA Ile

4329

C to G

C/C/C/C

C

G

C

N

 

tRNA Met

4467

C to A

C/C/C/C

C

A

C

N

 

COII

8020

G to A

G/P/C/A

G

A

A

Y

syn

ATPase8

8414

C to T

C/A/C/A

C

T

T

Y

L-F

ATPase6

8701

A to G

A/I/F/T

A

G

G

Y

T-A

COIII

9824

T to A

T/F/L/C

T

A

A

Y

syn

ND3

10398

A to G

A/E/E/A

A

G

G

Y

T-A

 

10400

C to T

C/I/T/E

C

T

T

Y

syn

ND4

10873

T to C

T/T/T/C

T

C

C

Y

syn

 

11984

T to A

T/A/S/T

T

A

T

Y

Y-H

ND6

14580

A to T

 

A

T

T

Y

syn

 

14587

A to C

 

A

C

C

Y

syn

 

14605

A to G

 

A

G

G

Y

syn

 

14668

C to T

 

C

T

T

Y

syn

Cytb

14783

T to C

T/F/K/A

T

C

C

Y

syn

 

15043

G to A

 

G

A

A

Y

syn

 

15301

G to A

 

G

A

A

Y

syn

 

15326

A to G

A/L/S/A

A

G

G

Y

T-A

D-loop

16223

C to T

 

C

T

T

Y

 
 

16311

T to C

 

T

C

C

Y

 
 

16362

T to C

 

T

C

C

Y

 
  1. *Data show the conservation of amino acid for polypeptides or nucleotide for rRNAs, in human (H), mouse (M), bovine (B), and Xenopus laevis (X).
  2. †Cambridge sequence.
  3. ‡See http://www.mitomap.org.
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BMC Medical Genetics

ISSN: 1471-2350

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