Table 2 |
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|
Summary of somatic mutations identified in parathyroid adenomas |
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|
Tumor ID |
Tumor Type |
Mutation |
Gene affected |
Expected Protein Change |
Previously seen? |
|
|
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|
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 |
|
|
|
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|
* indicates that this mutation appeared to be heteroplasmic LIMM-Lethal Infantile Mitochondrial Myopathy |
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|
Costa-Guda et al. BMC Endocrine Disorders 2007 7:8 doi:10.1186/1472-6823-7-8 |
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