Table 2.
Analysis summary of yeast equivalents to human MLH3 SNPs for defects in crossing over and mismatch repair.
| Variant | SNP ID | Yeast Equiv | MMR | CO | Domain |
|---|---|---|---|---|---|
| G62R | rs761501352 | T65R | + | + | ATP binding |
| R93Q | rs781779034 | R96Q | +/− | − | ATP binding |
| R93G | rs28756978 | R96G | ND | − | ATP binding |
| P183L | rs759067670 | P199L | +/− | − | ATP binding |
| N291K | rs767413852 | L313K | + | + | Conserved amino acid |
| F390I | rs61752721 | R407I | +/− | + | undefined |
| R1230C | rs746431837 | R530C | − | − | Endonuclease |
| R1230H | rs781739661 | R530H | − | − | Endonuclease |
| R1232C | rs550698696 | R532C | +/− | + | Endonuclease |
| A1394T | rs138006166 | A702T | +/− | − | Endonuclease |
| G1396W | rs368876363 | G704W | +/− | +/− | Endonuclease |
“Variant” refers to amino acid change conferred by the indicated SNP. “Yeast equiv” is the orthologous amino acid in Saccharomyces cerevisiae. MMR mismatch repair phenotype, CO crossing over phenotype. For these phenotypes, “+” is WT level, “−” is null, and “+/−” is intermediate. ND no data. See Supplementary Table 1 for the complete dataset.