Table 2 Analysis of whole mitochondrial genome.

From: Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

Position

Gene

rCRS base

Mutation

AA change

mtDNA databases*

249

D-loop

A

del

no

Polymorphic Sites

263

D-loop

A

G

no

Polymorphic Sites

523

D-loop

A

del

no

Polymorphic Sites

524

D-loop

C

del

no

Polymorphic Sites

16129

D-loop

G

A

no

Polymorphic Sites

16172

D-loop

T

C

no

Polymorphic Sites

16304

D-loop

T

C

no

Polymorphic Sites

16519

D-loop

T

C

no

Polymorphic Sites

750

12s rRNA

A

G

no

Polymorphic Sites

1438

12s rRNA

A

G

no

Polymorphic Sites

1694

16s rRNA

T

C

no

Polymorphic Sites

2706

16s rRNA

A

G

no

Polymorphic Sites

3107

16s rRNA

C

del

no

Polymorphic Sites

4086

ND1

C

T

no

Polymorphic Sites

3970

ND1

C

T

no

Polymorphic Sites

4769

ND2

A

G

no

Polymorphic Sites

8860

ATPase6

A

G

Thr -> Ala

Polymorphic Sites

9055

ATPase6

G

A

Ala -> Thr

Polymorphic Sites

10310

ND3

G

A

no

Polymorphic Sites

11719

ND4

G

A

no

Polymorphic Sites

13928

ND5

G

C

Ser -> Thr

Polymorphic Sites

12882

ND5

C

T

no

Polymorphic Sites

12955

ND5

A

G

Asn ->Asp

Not Reported

13759

ND5

G

A

Ala -> Thr

Polymorphic Sites

14766

Cytb

C

T

no

Polymorphic Sites

15326

Cytb

A

G

Thr -> Ala

Polymorphic Sites

6392

cox 1

T

C

no

Polymorphic Sites

6962

cox 1

G

A

no

Polymorphic Sites

7028

cox1

C

T

no

Polymorphic Sites

  1. del: deletion;* databases: MITOMAP, mtDB and mtSNP.