MSH6 encodes a G/T mismatch-binding protein. The MSH6 LEU222TER variant is a 1-bp deletion within the MSH6 gene in the Human colon adenocarcinoma cell line, HCT-15. The variant occurs at codon 222, changing a leucine to a termination codon. The same study also idetified a 5-bp deletion/substitution at codon 1103 (TTGATAGAGT to TTTGT), which created a new termination codon 9-bp downstream (Papadopoulos et al., 1995).
Loss of function of MSH6 LEU222TER [nucleoplasm]