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Table 2 Variants classified as “Likely to be Lynch syndrome” (LLS) with functional assay

From: CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein

No.

Variant

Definition of LLSa

Functional assay

IHC

MSI

References

  

MMR activity

Interaction with MSH2

Locali-zation

ATP hydrolysis

Mismatch recognition

MLH1

MSH2

MSH6

  

1

G566R

1

Inconclusive

Normal

ND

Abnormal

ND

ND

ND

ND

H

[12, 3032]

2

R976H

1,2

ND

Normal

ND

ND

Abnormal

Normal

Normal

Abnormal

H

[30, 33]

3

G1139S

1,2

ND

ND

ND

Abnormal

ND

Normal

Inconclusive

Abnormal

H

[3436]

4

S1188N

1,2

Abnormal

ND

ND

ND

ND

Normal

Normal

Abnormal

H

[38]

5

E1193K

1,2

Abnormal

Abnormal

ND

ND

ND

Normal

Inconclusive

Abnormal

H

[31, 37]

  1. Abbreviations: ND, Not done, H, MSI-high.
  2. a See Table 1.