A primary endometrial cancer and in an endometrial carcinoma cell line, Risinger et al. (1996) found a somatic mutation in the MSH3 gene. The mutation resulted in a truncated product and consisted of a single nucleotide deletion, loss of an A/T basepair at position 1148. This change generated a premature nonsense codon 58 amino acids downstream and resulted in a protein 723 amino acids shorter than the wildtype gene product.
Single A/T deletion
Valine 356 to Valine, GTT to GTG
58 aa later at aa 414 new terminator is introduced.