Table 3.
Families | Genes | Exon | Codons affected | DNA change | Amino acid change | Mutation types |
H31 | hMLH1 | 16 | 581 | T>C, at 1742 | Pro→Leu | Missense |
H111 | hMLH1 | 19 | Non-coding area | A>T, at 2438 | ||
H114 | hMLH1 | 12 | 384 | T→A, at 1151 | Val→Asp | Missense |
H2 | hMLH1 | 8 | 217 | T->C, at 649 | Arg→Cyc | Missense |
H11 | hMLH1 | 1 | 5 | A>C, at 14 | Pro→His | Missense |
H38 | hMLH1 | 2 | 99 | A>C, at 295 | Arg→Arg | Silent |
H38 | hMLH1 | 2 | 99 | Del G, at 296 | Frame shift | Frame shift |