. Author manuscript; available in PMC: 2011 Oct 12.

Published in final edited form as: Environ Mol Mutagen. 2009 Jan;50(1):10–26. doi: 10.1002/em.20433

TABLE V.

Summary of Sequence Variants in mtDNA from Umbilical Cord Tissue of Control and HIV-1-Uninfected Infants Receiving AZT-Based Prepartum Therapy

Sequence and location^a	Amino acid change	Polymorphic site (PS) or novel (N)	Evidence of pathogenicity	No. of unexposed infants	No. of exposed infants
(a) G8269A transition in COII	Noncoding	PS^b	No	1	0
(b) 9-base deletion at nucleotide 8271 in NC7	Noncoding	PS^c	No	1	4
(c) A8374G transition in ATPase8	Synonymous	N	Unknown^d	0	1
(d) T9950C transition in COIII	Synonymous	PS^c	No	1	1
(e) G9966A transition in COIII	Val → Ile	PS^c	No	1	2
(f) G9986A transition in COIII	Gly → Asp	PS^e	Unknown^d	0	1
(g) T10115C transition in ND3	Synonymous	PS^c	No	3	2
(h) A10398G transition in ND3	Thr → Ala	PS^c	Yes^f	0	5
(i) T10454C transition in tRNA^Arg	Noncoding	PS^c	No^g	0	1
(j) C14392G transversion in ND6	His → Asp	N	Unknown^d	0	2
(k) C14558T transition in ND6	Pro → Leu (2)	N	Unknown^d	0	1
(l) 19-base insertion at 14759 in Cytb	Miscoding	N	Yes^h	0	1
(m) C14766T transition in Cytb	Thr → Ile	PS^c	No	0	1
(n) –T single-base deletion at 15940-15944 in tRNA^Thr	Noncoding	PS^c	No^g	1	0
(o) A15924G transition in tRNA^Thr	Noncoding	PS^c	Yes^g,i	0	1
(p) T15942C transition in NC10	Noncoding	PS^c	No	0	1

Abbreviations for relevant mtDNA function locations: COII, Cytochrome c oxidase subunit 2; NC7, noncoding nucleotides in NC7 region; ATPase8, ATP synthase F0 subunit 8; COIII, Cytochrome c oxidase subunit 3; ND3, NADH dehydrogenase subunit 3; ND6, NADH dehydrogenase subunit 6; Cytb, Cytochrome b; NC10, noncoding nucleotides in NC10 region.

Saxena et al. [2006].

Ruiz-Pesini et al. [2007], URL: http://www.mitomap.org.

Reports evaluating the potential impact of these mtDNA sequences changes on protein function were not found.

Benson et al. [2000]; Torpey [2007].

Canter et al. [2005]; Bai et al. [2007].

McFarland et al. [2004]; sequence changes in mt tRNA genes may be noncoding but still may have significant impact on tRNA molecule function.

Large insertions/frameshift mutations in coding regions would presumably result in altered protein function.

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Ozawa et al. [1991]; Yoon et al. [1991]; Brown et al. [1992]; Rupert et al. [2004].