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J Clin Pathol 53:841-845 doi:10.1136/jcp.53.11.841

Pathogenesis of non-familial colorectal carcinomas with high microsatellite instability

Table 5

Somatic mutations of hMSH2 and hMLH1 genes in microsatellite instability (MSI) high cases

Case Gene Affected codon DNA change Nomenclature of mutation
Sequence accession numbers by Genebank (hMLH1, U07418; hMSH2, U03911).
ins, insertion.
72 hMSH2 754 ins G Frameshift to stop at 786
78 hMLH1 163 TAC-TAA Nonsense
148 hMLH1 179 ins G Frameshift to stop at 197
151 hMLH1 291 TTG-TAG Nonsense
121 hMLH1 425 GAT-GGT Missense from Asp to Gly
102 hMLH1 320 ins C Frameshift to stop at 361

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