Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA^Thr Gene

Table 2

mtDNA variants in a Chinese pedigree with T2DM.

Gene	Position	Replacement	AA change	Conservation (H/B/M/X)^a	Previously reported^b
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
tRNA^Thr	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.