Mitochondrial DNA mutations in oxyphilic and chief cell parathyroid adenomas

Costa-Guda, Jessica; Tokura, Takehiko; Roth, Sanford I; Arnold, Andrew

doi:10.1186/1472-6823-7-8

BMC Endocrine Disorders

Table 1 Novel germline sequence variants identified by this study

From: Mitochondrial DNA mutations in oxyphilic and chief cell parathyroid adenomas

Nucleotide position	Base Change	Region Affected	Expected Protein Change
1007	g-a	12s rRNA	n/a
1339	g-c	12s rRNA	n/a
2218	c-t	16s rRNA	n/a
2639	c-t	16s rRNA	n/a
3159	ins t	16s rRNA	n/a
3198	a-c	16s rRNA	n/a
3511	a-g	ND1	69 Thr-Ala
3719	a-g	ND1	138 Gln-Arg
3826	t-c	ND1	no change
3867	c-t	ND1	no change
4296	t-c	Ile tRNA	n/a
4674	a-g	ND2	69 Ile-Val
4718	a-g	ND2	no change
4735	c-a	ND2	89 Thr-Arg
5238	c-t	ND2	no change
5250	t-c	ND2	no change
5318	c-t	ND2	no change
5463	c-t	ND2	332 Leu-Phe
6026	g-a	COI	42 Gly-Asp
6339	a-g	COI	146 Thr-Ala
6425	t-c	COI	no change
6570	g-t	COI	223 Ala-Ser
6656	c-t	COI	no change
6775	a-c	COI	291 His-Pro
7295	a-g	COI	no change
7744	t-c	COII	no change
7963	a-g	COII	no change
7966	c-t	COII	no change
8395	c-t	ATPase8	no change
8515	c-t	ATPase8	no change
8602	t-c	ATPase6	26 Phe-Leu
8953	a-g	ATPase6	143 Ile-Val
8987	t-g	ATPase6	154 Met-STOP
9088	t-c	ATPase6	188 Ser-Pro
9210	a-g	COIII	2 Thr-Ala
9233	t-c	COIII	no change
9426	c-t	COIII	74 Pro-Ser
9555	c-a	COIII	117 Pro-Thr
9614	a-t	COIII	no change
9656	t-c	COIII	no change
10152	g-c	ND3	32 Glu-Gln
10325	g-a	ND3	no change
10754	a-c	ND4L	no change
10775	g-a	ND4	6 Val-Ile
10973	c-a	ND4	72 Leu-Ile
11151	c-t	ND4	131 Ala-Val
11354	t-c	ND4	199 Tyr-His
11566	a-g	ND4	no change
11617	t-c	ND4	no change
11911	c-a	ND4	no change
11928	a-g	ND4	390 Asn-Ser
12879	t-c	ND5	no change
12953	c-t	ND5	206 Ala-Val
12954	t-c	ND5	no change
12976	c-g	ND5	214 Leu-Val
13129	c-t	ND5	265 Pro-Ser
13132	c-t	ND5	no change
13260	t-c	ND5	no change
13264	c-t	ND5	no change
13392	t-c	ND5	no change
13422	a-g	ND5	no change
13708	g-a	ND5	458 Ala-Thr
13743	t-c	ND5	no change
14364	g-a	ND6	no change
14581	t-c	ND6	no change
14694	c-g	Gln tRNA	n/a
14814	c-g	CYTB	23 Thr-Ser
14869	g-c	CYTB	no change
15148	g-a	CYTB	no change
15172	g-a	CYTB	no change
15391	c-t	CYTB	no change
15544	c-a	CYTB	no change
15629	t-c	CYTB	no change
15661	c-t	CYTB	no change
15697	t-g	CYTB	317 Phe-Leu
15709	c-g	CYTB	321 Ser-STOP
15783	c-t	CYTB	346 Pro-Leu
16478	c-t	non-coding	n/a
16521	a-c	non-coding	n/a

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ISSN: 1472-6823

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