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Table 2 mtDNA variants in two Chinese pedigrees, GFX and WZD1

From: A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss

Gene

position

replacement

Conservation

GFX

WZD1b

Previously reportedc

   

(H/B/M/X)a

   

D-loop

73

A >G

 

G

G

yes

 

150

C > T

 

T

T

yes

 

195

T > C

 

C

C

yes

 

263

A > G

 

G

G

yes

 

310

T > CTC

  

CTC

yes

 

316

InsetC

 

insetC

 

no

 

392

T > C

 

C

 

no

 

16140

T > C

  

C

Yes

 

16182

A > C

  

C

Yes

 

16183

A > C

 

C

C

Yes

 

16189

T > C

 

C

C

Yes

 

16217

T > C

 

C

C

Yes

 

16274

G > A

  

A

Yes

 

16305

A > T

  

T

Yes

 

16335

A > G

  

G

Yes

 

16362

T > C

 

C

 

Yes

 

16519

T > C

 

C

 

yes

 

16545

T > C

 

C

 

no

12SrRNA

750

A > G

A/A/A/>

G

 

yes

 

1119

T > C

T/T/T/C

C

C

Yes

 

1438

A > G

A/A/A/G

G

G

Yes

 

1555

A > G

A/A/A/A

G

G

Yes

16SrRNA

2706

A > G

A/G/A/A

G

G

Yes

 

3107

delC

  

delC

Yes

ND1

3497

C > T

A/A/L/S

T

T

Yes

 

3571

C > T

L/L/L/L

 

T

Yes

 

3738

C > T

  

T

Yes

ND2

4769

A > G

 

G

G

Yes

 

5441

A > G

 

G

 

Yes

CO1

7028

C > T

 

T

T

Yes

CO2

8200

T > C

  

C

Yes

 

8257

A > G

  

G

Yes

NC7

8271 > 79

9 > bpdel

  

9 > bpdel

Yes

 

8281 > 89

9 > bpdel

 

9 > bpdel

 

No

ATP6

8860

A > G(Thr to Ala)

T/A/A/T

G

G

Yes

CO3

9827

C > T

 

T

 

Yes

ND3

10398

A > G(Thr to Ala)

T/T/T/A

G

 

Yes

ND4

11719

G > A

 

A

A

Yes

ND5

13629

A > G

 

G

 

No

CYB

14766

C > T

 

T

 

Yes

 

15301

G > A

 

A

 

Yes

 

15326

A > G(Thr to Ala)

T/M/I/I

G

G

Yes

 

15346

G > A(His to Asp)

H/H/H/H

A

A

Yes

tRNAThr

15941

T > C

 

C

 

Yes

  1. A Conservation of variant in human(H), bovine(B), mouse(M) and xenopus laevis(X)
  2. b X.Tang et al(2007)[14]
  3. c http://www.mitomap.organdmtBD