Mitochondrial DNA mutations in oxyphilic and chief cell parathyroid adenomas

BMC Endocrine Disorders

Table 2 Summary of somatic mutations identified in parathyroid adenomas

Tumor ID	Tumor Type	Mutation	Gene affected	Expected Protein Change	Previously seen?
1	Oxyphil cell	12631T>C	ND5	99Ser>Pro	normal variant
2	Oxyphil cell	3173G>A	16S rRNA		novel
		6869C>T	CO1	no change	somatic mutation-cancer cell line
		12425delA	ND5	30Asn>Frameshift	novel
3	Oxyphil cell	559G>A*	D-loop		normal variant
		7028T	CO1	no change	normal variant
4	Oxyphil cell	3572insC	ND1	89Leu>Frameshift	novel
5	Oxyphil cell	15924A>G	Thr tRNA		LIMM
6	Oxyphil cell	304C>T	D-loop		normal variant
		11038delA	ND4	93Lys>Frameshift	novel
7	Oxyphil cell	310insC	D-loop		normal variant
8	Oxyphil cell	3566insC	ND1	87Thr>Frameshift	novel
9	Oxyphil Cell	4172T>C	ND1	289Leu>Pro	novel
		5026A>G	ND2	186His>Arg	somatic mutation-oral cancer
		10522G>A	ND4L	18Gly>Glu	novel
		12372G>A	ND5	no change	normal variant
10	Chief Cell	11038delA	ND4	93K>Frameshift	novel
		13577T>C	ND5	414Ile>Thr	novel
		14386T>C	ND6	no change	normal variant
11	Chief Cell	16311T>C	D-loop		normal variant
12	Chief Cell	12382A>G	ND5	16Ile>Val	novel
13	Chief Cell	15578T>C	CYTB	278Tyr>His	novel
14	Chief Cell	8281del8	non-coding		novel
		12753A>G	ND5	no change	novel
		14488delT	ND6	62Gly>Frameshift	novel
		16519T>C	D-loop		normal variant
15	Chief Cell	253C>A	D-loop		somatic mutation

ISSN: 1472-6823