Novel germline sequence variations in patients with hepatocellular carcinomas
| Case | Gene | Polymorphism | Codon | AA change | Function |
|---|---|---|---|---|---|
| Missense changes are in bold. | |||||
| HE10 | Dloop | T146A | H strand origin | ||
| HE14 | Dloop | A259G | mtTF1 binding site | ||
| HE14 | Dloop | T504C | |||
| HE01 | COI | A6338G | CTA>CTG | L145L | Cytochrome c oxidase subunit I |
| HE17 | COIII | A9254G | TGA>TGG | W16W | Cytochrome c oxidase subunit III |
| HE17 | COIII | T9530C | CCT>CCC | P108P | Cytochrome c oxidase subunit III |
| HE19 | ND3 | A10153C | GAA>GCA | E32A | Nicotinamide adenine dinucleotide dehydrogenase subunit 3 |
| HE19 | ND4 | A11015G | AGT>GGT | S86A | Nicotinamide adenine dinucleotide dehydrogenase subunit 4 |
| HE17 | ND6 | A14388G | TTA>CTA | L96L | Nicotinamide adenine dinucleotide dehydrogenase subunit 6 |
| HE17 | E | A14679G | tRNA glutamic acid | ||
| HE20 | CYTB | G15323A | GCA>ACA | A193T | Cytochrome b |
| HE16 | CYTB | A15859G | CTA>CTG | L371L | Cytochrome b |