Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

Table 3 Context and effect of alleles observed in the six heteroplasmic sites

					Reference			Mutated
Position	Type	11 bases prior to mutation site	Reference base	Strand	Codon	Amino acid	Codon position	Codon	Amino acid	S/N	Gene
5,063	DN (germline), FS (germline)	CCGTACAACCC	T	+	cct	Pro	3rd	ccc	Pro	S	NADH dehydrogenase subunit 2
7,028	FS (somatic)	TACGTTGTAGC	T	+	ggt	Gly	3rd	ggc	Gly	S	Cytochrome c oxidase subunit I
8,992	FS (germline)	AACCAATAGCC	C	+	ctg	Leu	1st	ttg	Leu	S	ATP synthase 6; ATPase subunit 6
14,053	WS	ACCAAATCTCC	A	+	acc	Thr	1st	ccc	Pro	N	NADH dehydrogenase, subunit 5

DN, de novo mutation; FS, allele frequency shift; WS, without allele frequency shift; N, nonsynonymous substitutions; S, synonymous substitutions.

ISSN: 1474-760X