Table 1

hMSH6 polymorphisms

PolymorphismLocationAllele frequency
A to G (Glu to Gly)116 (exon 1, codon 39)A=15% G=85%
C to A (silent)186 (exon 1, codon 62)C=75% A=25%
A to G (silent)276 (exon 2, codon 92)ND
C to T (silent)540 (exon 3, codon 180)ND
C to T (intron)IVS3 (intron 3, −56)C=92.5% T=7.5%
C to T (silent)642 (exon 4, codon 214)C=95% T=5%
A to T (intron)IVS5 (intron 5, 14)ND
A to G (intron)IVS6 (intron 6, 145)ND
Poly A expansion (intron)IVS6 (intron 6, −4)ND
Duplication of ATCT (intron)IVS7 (intron 7, 31 to 34)ATCT=60%
Deletion of a duplicated
TTTTTGTTTTAATTCC (intron)IVS7 (intron 7, −70 to −55)ND
Insertion of A (intron)IVS8 (intron 8, 52)ND
C to G (intron)IVS8 (intron 8, 54)ND
Poly A expansion (intron)IVS9 (intron 9-10)ND
  • The location of each indicated change is given as either the cDNA coordinate of the nucleotide change with the affected codon in brackets or the intron number with the intron coordinates of the indicated change in brackets. The term “poly A expansion” refers to a run of As in two different introns where sequencing suggests that different length variants exist or are highly prone to stuttering so that it is not possible to sequence across them.