Table 2

Germline alterations of hMSH6

Alteration no.LocationBase changea,bConsequenceAllele frequencyc
1dExon 1116 (G→A)Gly39Glu0.01
2Exon 1186 (A→C)None0.14
3Exon 2276 (G→A)None0.01
4Exon 3540 (C→T)None0.17
5Exon 4642 (T→C)None0.06
6Exon 41186 (C→G)Leu395Val0.01 (0.02)
7Intron 1−36 (A→G)None0.09
8Intron 2+14 (C→G)None0.01
9Intron 3−54 (C→T)None0.08
10Intron 5+14 (A→T)None0.21
11Intron 5−16 (C→T)None0.01
12Intron 7−64 (gtttt deletion)None0.01
13Intron 7−34 (tttgttttaattccttt deletion)None0.08 (0.14)
14Intron 9−9 (tt deletion)None0.01
15Intron 9−9 (ttt insertion)None0.01
  • a The nucleotide designations are as provided in GenBank (Accession numbers U73732U73737).

  • b For intronic alterations, a (+) sign is used to indicate the distance of the alteration from the 5′ end of the intron and a (−) sign is used to indicate the distance of the alteration from the 3′ end of the intron.

  • c Frequency of alteration in the 41 MSI-L patients. The frequency of this alteration in 50 normal blood bank donors is indicated in parentheses for two of the alterations.

  • d Previously reported as a common polymorphism (35) .