Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0

BMC Research Notes

Table 3 mtDNA homoplasmic and heteroplasmic mutations identified in fibroblast sample 7 (mtDNA7).

mtDNA Gene Location	Nucleotide Position	Ref	MitoChip call	Nucleotide change		Comment
			mtDNA7	MitoChip GSEQ	Conventional sequencing
D-loop	146	T	N	T > N	T > C	N = point mutation (1)
D-loop	315	C	C	C	insC	Insertion (1)
D-loop	464	A	N	A > N	A > C	N = New point mutation (1)
D-loop	523-524	AC	AC	AC	delAC	Deletion (1)
16S rRNA	1814	A	R	A > G	-	Heteroplasmic mutation (2)
16S rRNA	3107	C	-	delC	delC	Deletion
MTND2	5264	C	T	C > T	C > T	New
MTND4	11466	T	K	T > G	-	Heteroplasmic mutation (2)
MTTL2	12307	A	R	A > G	-	Heteroplasmic mutation (2)
MTTL2	12309	A	R	A > G	-	Heteroplasmic mutation (2)
MTND5	13037	C	M	C > A	-	Heteroplasmic mutation (2)
MTTT	15944	T	Y	T > C	delT	Deletion (3)
MTTP	15977	C	T	C > T	C > T	New
D-loop	16189	T	N	T > N	T > C	N = point mutation (1)
D-loop	16192	C	C	C	insC	Insertion (1)
D-loop	16193	C	C	C	delC	Deletion (1)
D-loop	16343	A	N	A > N	A > G	N = point mutation (1)

Homozygous for the ITPA 94C > A I sequence variant (ITPA ^-/^-), using MitoChip v2.0 vs. conventional sequencing (dye-terminator sequencing). Abbreviations = mitochondrial genes according to international notation (see http://www.mitomap.com). In IUPAC base codes r = A or G, k = G or T, m = A or C, y = C or T, and n = A, C, G or T. The deletion 3107C was omitted from the resequencing array. (1) not assigned by MitoChip; (2) not assigned by conventional sequencing; (3) assigned by MitoChip as point mutation not as deletion; "-" not detected by conventional sequencing.

ISSN: 1756-0500