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Summary of MSH2 missense variant functional analyses
| Variant | Expression | Accumulation on chromatin | Protein interactions | Sensitivity to MNNG | Cell cycle arrest/apoptosis | Repair |
|---|---|---|---|---|---|---|
| D167H | + | +/− | +/− | + | + | + |
| K393M | + | +/− | +/− | + | + | +/− |
| R524P | + | − | − | − | − | − |
| P622L | +/− | − | − | − | − | − |
(+) Proficient compared to WT MSH2
(−) Deficient compared to WT MSH2
(+/−) Reduced compared to WT MSH2
