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Table 2 MLH1 and MSH2 variants

From: The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Id

Variant

Amino acid change

Identified in the present study

Phylogeny

Pathogenic status

References

 

MLH1

     

23

c.307-29 C>A

Intronic

+

-

-

-

24

c.350 C>T

p.Thr117Met

-

Conserved

Pathogen

[11,50]

25

c.453+79 A>G

Intronic

+

-

-

-

26

c.545+43 C>G

Intronic

+

-

-

-

27

c.655 A>G

p.Val219Ile

+

Ile other species

Neutral

[11,40,51]

28

c.790+10 A>G

Intronic

+

-

-

-

29

c.884+39 G>A

Intronic

-

-

-

-

30

c.884+83_84 ins T

Intronic

-

-

-

-

85

c.1217 G>A

p.Ser406Asn

+

Non-conserved

Neutral

[11,41,52]

31

c.1379 A>C

p.Glu460Ala

-

Non-conserved

-

-

86*

c.1558+11 G>A

Intronic

-

-

Neutral

[53]

32

c.1558+14 G>A

Intronic

+

-

Neutral

[40]

37

c.1668-19 A>G

Intronic

+

-

Neutral

[40]

101

c.1689 A>G

p.Ile563Met

-

Non-conserved

-

-

33

c.1732-2 A>T

Intronic

-

-

Pathogen

[54]

34

c.1852_1853 AA>GC

p.Lys618Ala

+

Non-conserved

Neutral/Pathogen

[9,11,45,46,48]

100

c.1942 C>T

p.Pro648Ser

-

Conserved

Pathogen

[9,45,55]

35

c.1959 G>T

p.Leu653Leu

+

-

Neutral

[42]

36

c.2152 C>T

p.His718Tyr

-

Conserved

Neutral

[11,56]

 

MSH2

     

89

c.-118 T>C

promoter

+

-

-

[32,33]

87

c.131 C>T

p.Thr44Met

-

Conserved

Pathogen

[55]

88

c.134 C>T

p.Ala45Val

-

Val other species

Neutral

[55]

39

c.212-23 A>C

Intronic

-

-

-

-

90*

c.287 G>A

p.Arg96His

-

Non-conserved

Neutral

[57,58]

91*

c.329 A>G

p.Lys110Arg

-

Non-conserved

Neutral

[57]

92*

c.380 A>G

p.Asn127Ser

-

Conserved

Neutral/Pathogen

[48,59]

93

c.560 T>G

p.Leu187Arg

-

Conserved

Neutral/Pathogen

[60]

41

c.965 G>A

p.Gly322Asp

+

Conserved

Neutral

[51,61]

43

c.1511-9 A>T

Intronic

+

-

-

-

48

c.1786_1788 del AAT

p.Asn596del

-

Non-conserved

Pathogen

[62,63]

95*

c.2006-6 T>C/G

Intronic

-

-

Neutral

[64]

96

c.2062 A>G

p.Met688Val

-

Conserved

-

-

97*

c.2139 G>C

p.Gly713Gly

-

-

Neutral

[57,65]

50

c.2500 G>A

p.Ala834Thr

-

Non-conserved

Neutral

[10,66]

51

c.2542 G>T

p.Ala848Ser

-

Conserved

-

-

  1. * identified in CRC families from other Caucasian populations than the Danish