Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNAThr Gene
Table 2
mtDNA variants in a Chinese pedigree with T2DM.
Gene
Position
Replacement
AA change
Conservation (H/B/M/X)a
Previously reportedb
D-loop
73
A-G
Yes
263
A-G
Yes
310
T-TC
Yes
374
A-G
Yes
489
T-C
Yes
514
C-Del
Yes
515
A-Del
Yes
16185
C-T
Yes
16189
T-C
Yes
16223
C-T
Yes
16232
C-A
Yes
16319
G-A
Yes
16362
T-C
Yes
12S rRNA
750
A-G
A/A/A/-
Yes
1438
A-G
A/A/A/G
Yes
16S rRNA
2706
A-G
A/G/A/A
Yes
3010
G-A
G/G/A/A
Yes
ND2
4769
A-G
Yes
4883
C-T
Yes
5178
C-A
Leu-Met
L/T/T/T
Yes
CO1
7028
C-T
Yes
7270
T-C
Val-Ala
V/M/M/I
No
CO2
8020
G-A
Yes
ATP8
8414
C-T
Leu-Phe
L/F/M/W
Yes
ATP6
8701
A-G
Thr-Ala
T/S/L/Q
Yes
8860
A-G
Thr-Ala
T/A/A/T
Yes
CO3
9540
T-C
Yes
10136
A-G
No
ND3
10181
C-T
Yes
10398
A-G
Thr-Ala
T/T/T/A
Yes
10400
C-T
Yes
ND4
10807
A-G
No
10873
T-C
Yes
11242
C-T
Yes
11719
G-A
Yes
ND5
12705
C-T
Yes
ND6
14256
T-C
Ile-Val
I/M/I/V
No
14596
A-G
Yes
14617
A-G
No
14668
C-T
Yes
Cytb
14766
C-T
Thr-Ile
T/S/T/S
Yes
14783
T-C
Yes
15043
G-A
Yes
15301
G-A
Yes
tRNAThr
15897
G-A
G/G/G/G
No
aConservation of amino acid for polypeptides or nucleotide for RNAs in human (H), bovine (B), mouse (M), and Xenopus laevis (X). bCRS: Cambridge Reference Sequence. cSee online mitochondrial genome databases http://www.mitomap.org.