No. | Variant | Definition of LLSa | Functional assay | IHC | MSI | References | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
MMR activity | Interaction with MSH2 | Locali-zation | ATP hydrolysis | Mismatch recognition | MLH1 | MSH2 | MSH6 | |||||
1 | G566R | 1 | Inconclusive | Normal | ND | Abnormal | ND | ND | ND | ND | H | |
2 | R976H | 1,2 | ND | Normal | ND | ND | Abnormal | Normal | Normal | Abnormal | H | |
3 | G1139S | 1,2 | ND | ND | ND | Abnormal | ND | Normal | Inconclusive | Abnormal | H | |
4 | S1188N | 1,2 | Abnormal | ND | ND | ND | ND | Normal | Normal | Abnormal | H | [38] |
5 | E1193K | 1,2 | Abnormal | Abnormal | ND | ND | ND | Normal | Inconclusive | Abnormal | H |