Abstract

G A A b st ra ct s Furthermore, when the exon 3 microsatellite was surrounded by 6 nucleotides that normally flank the exon 10 microsatellite, fully mutant exon 3 frameshifts appeared compared to none from the WT exon 3 sequence. Conclusions: The selectivity for specific coding microsatellite frameshift mutation within ACVR2 lies in part with the flanking nucleotides surrounding the microsatellite. Our observation may have implications for frequency of frameshifts at other coding and noncoding microsatellites, and for how MMR deficiency drives actual frameshift mutation.

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