Table 5

In silico functional characterization of the missense variants

Id

Variant

PMUT

SIFT

PolyPhen

Phylogeny

Activity in functional assays

References

MLH1

24

p.Thr117Met

Neutral

Not tolerated

Possible damaging

Conserved

Aberrant

[11,12]

27

p.Val219Ile

Neutral

Tolerated

Benign

Ile other species

Normal

[11,12]

85

p.Ser406Asn

Neutral

Tolerated

Benign

Non-conserved

Normal

[11]

31

p.Glu460Ala

Pathogen

Tolerated

Benign

Non-conserved

NA

-

101

p.Ile563Met

Neutral

Tolerated

Possible damaging

Non-conserved

NA

-

34

p.Lys618Ala

Pathogen

Not tolerated

Possible damaging

Non-conserved

Normal/aberrant

[9,11,45–47]

100

p.Pro648Ser

Pathogen

Not tolerated

Probably damaging

Conserved

Normal (aberrant protein stability)

[9,67]

36

p.His718Tyr

Neutral

Not tolerated

Probably damaging

Conserved

Normal

[11]

MSH2

89

p.Thr44Met

Neutral

Not tolerated

Possible damaging

Conserved

NA

-

87

p.Ala45Val

Neutral

Tolerated

Benign

Val other species

NA

-

90

p.Arg96His

Pathogen

Tolerated

Probably damaging

Non-conserved

NA

-

91

p.Lys110Arg

Neutral

Tolerated

Benign

Non-conserved

NA

-

92

p.Asn127Ser

Neutral

Not tolerated

Probably damaging

Conserved

NA

-

93

p.Leu187Arg

Neutral

Not tolerated

Probably damaging

Conserved

NA

-

41

p.Gly322Asp

Neutral

Tolerated

Benign

Conserved

Slightly reduced

[8,44]

96

p.Met688Val

Neutral

Not tolerated

Probably damaging

Conserved

NA

-

50

p.Ala834Thr

Pathogen

Tolerated

Possible damaging

Non-conserved

Normal

[10]

51

p.Ala848Ser

Neutral

Not tolerated

Possible damaging

Conserved

NA

-

NA, not available

Danish variants that have not been described previously are in bold

Christensen et al. BMC Medical Genetics 2008 9:52   doi:10.1186/1471-2350-9-52