Table 1.
The hprt gene mutations detected in MSH6(+/+) and MSH6(−/−) cell lines
| Position* | Mutation† | Mutation type | Effect | Incidence
|
|
|---|---|---|---|---|---|
| MSH6(+/+) | MSH6(−/−) | ||||
| 28−2 | agAT-ggAT | Transition | Splicing error | 1 | — |
| 65 | TTT-TCT | Transition | Missense (Phe → Ser) | — | 1 |
| 98 | A3-A2 | Deletion | Frameshift | 1 | — |
| 133 | AGG-GGG | Transition | Missense (Arg → Gly) | — | 1 |
| 146 | T2-T3 | Insertion | Frameshift | — | 1 |
| 151 | CGA-TGA | Transition | Nonsense (Arg → stop) | — | 4 |
| 197 | TGT-TAT | Transition | Missense (Cys → Tyr) | 1 | — |
| 202 | CTC-TTC | Transition | Missense (Leu → Phe) | 1 | — |
| 207 | G6–G7 | Insertion | Frameshift | 19 | 7 |
| 207 | G6–G5 | Deletion | Frameshift | 5 | 1 |
| 325 | CCAGT-CGT | Deletion | Frameshift | — | 1 |
| 385−2 | agAA-ggAA | Transition | Splicing error | 1 | 1 |
| 395 | ATT-ACT | Transition | Missense (Ile → Thr) | 1 | — |
| 404 | GAT-GGT | Transition | Missense (Asp → Gly) | 1 | — |
| 419 | GGC-GTC | Transversion | Missense (Gly → Val) | — | 1 |
| 421 | A4–A5 | Insertion | Frameshift | 1 | — |
| 454 | CAG-TAG | Transition | Nonsense (Gln → stop) | 1 | 4 |
| 483 | A2–A1 | Deletion | Frameshift | 1 | — |
| 496 | A4–A3 | Deletion | Frameshift | 1 | — |
| 508 | CGA-TGA | Transition | Nonsense (Arg → stop) | 6 | 17 |
| 532+1 | CTgt-CTat | Transition | Splicing error | — | 1 |
| 533−2 | agTT-ggTT | Transition | Splicing error | 2 | — |
| 533−1 | agTT-atTT | Transversion | Splicing error | 1 | 1 |
| 568 | GGA-TGA | Transversion | Nonsense (Gly → stop) | — | 1 |
| 577 | CTT-ATT | Transversion | Missense (Leu → Ile) | — | 1 |
| 580 | GAC-AAC | Transition | Missense (Asp → Asn) | 1 | — |
| 582 | GAC-GAA | Transversion | Missense (Asp → Glu) | 1 | 1 |
| 610−2 | agCA-ggCA | Transition | Splicing error | 2 | — |
| 610−1 | agCA-aaCA | Transition | Splicing error | 1 | — |
| 610 | CAT-TAT | Transition | Missense (His → Tyr) | 1 | 6 |
| Total | 50 | 50 | |||
*
Mutated nucleotides in the hprt coding region are indicated relative to the ATG initiation codon. Intron mutations are indicated as the cDNA position minus (−) or plus (+) the appropriate number of nucleotides into the introns.
†
Uppercase, exon sequences; lowercase, intron sequences; underlined, mutated nucleotides.