Table 4.
Heterozygous mutations in genes involved in DNA repair
| Chromosome | Position | WT seq. | MT seq | Quality | Mutation | Gene | Product | DNA changes | Protein changes | Read number | MT seq ratio | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WT seq. | MT seq. | |||||||||||
| I | 177,825 | G | T | 533.19 | missense | AGOS_AAL093C | DNA mismatch repair protein (AgMLH3) | c.1516C > A | p.L506M | 22 | 17 | 0.436 |
| IV | 997,942 | T | G | 729.19 | missense | AGOS_ADR168C | DNA mismatch repair protein (AgMSH3) | c.2937A > C | p.K979N | 39 | 23 | 0.371 |
| IV | 998,607 | G | A | 982.19 | nonsense | AGOS_ADR168C | DNA mismatch repair protein (AgMSH3) | c.2272C > T | p.Q758* | 22 | 29 | 0.569 |
| IV | 1,446,658 | G | T | 747.19 | missense | AGOS_ADR411W | Checkpoint protein (AgRAD17) | c.358G > T | p.D120Y | 32 | 24 | 0.429 |
| V | 486,710 | G | A | 711.19 | missense | AGOS_AEL075W | DNA polymerase delta subunit 3 (AgPOL32) | c.490G > A | p.A164T | 18 | 22 | 0.550 |
| V | 1,239,357 | C | A | 411.19 | missense | AGOS_AER327C | Uracil-DNA glycosylase (AgUNG1) | c.757G > T | p.A253S | 27 | 16 | 0.372 |
| V | 1,445,972 | G | A | 869.19 | missense | AGOS_AER421W | DNA mismatch repair protein (AgPMS1) | c.1762G > A | p.A588T | 23 | 28 | 0.549 |
| VI | 65,368 | C | T | 587.19 | missense | AGOS_AFL199C | DNA mismatch repair protein (AgMLH1) | c.320G > A | p.C107Y | 20 | 20 | 0.500 |
| VI | 677,447 | G | A | 967.19 | nonsense | AGOS_AFR133C | single-stranded DNA endonuclease (AgRAD2) | c.2143C > T | p.Q715* | 25 | 30 | 0.545 |
| VI | 677,525 | C | A | 743.19 | missense | AGOS_AFR133C | single-stranded DNA endonuclease (AgRAD2) | c.2065G > T | p.D689Y | 27 | 28 | 0.509 |
| VI | 834,113 | A | G | 889.19 | missense | AGOS_AFR220W | DNA helicase/Ubiquitin ligase (AgRAD5) | c.2419A > G | p.S807G | 18 | 25 | 0.581 |
| VI | 834,860 | G | T | 678.19 | nonsense | AGOS_AFR220W | DNA helicase/Ubiquitin ligase (AgRAD5) | c.3166G > T | p.E1056* | 29 | 22 | 0.431 |
| VI | 848,262 | A | G | 828.19 | missense | AGOS_AFR226C | DNA mismatch repair protein (AgMLH2) | c.1882 T > C | p.F628L | 26 | 31 | 0.544 |
| VI | 1,528,970 | C | T | 1142.19 | nonsense | AGOS_AFR603C | DNA mismatch repair protein (AgMSH2) | c.2711G > A | p.W904* | 18 | 36 | 0.667 |
| VI | 1,529,553 | G | A | 1151.19 | missense | AGOS_AFR603C | DNA mismatch repair protein (AgMSH2) | c.2128C > T | p.P710S | 12 | 33 | 0.733 |
| VII | 1,278,725 | T | G | 786.19 | missense | AGOS_AGR116W | DNA mismatch repair protein (AgMSH6) | c.1005 T > G | p.N335K | 24 | 25 | 0.510 |
| VII | 1,368,167 | C | T | 788.19 | missense | AGOS_AGR162C | DNA repair protein (AgRAD4) | c.1214G > A | p.R405Q | 17 | 23 | 0.575 |
*Translation stops here