Table 3

Characteristics of novel missense alterations of unknown significance

Missense alterations (amino acid substitution)GeneChange polarityLocation in functional domainAbsence in general population*Matched AMS or sHNPCC criteriaCosegregations with disease
*Alteration not found in any of 100 normal controls.
NE, not examined.
E853A MSH2 Yes?YessHNPCC(+)No
I19F MLH1 NoYes - ATPaseYessHNPCC(+)NE
L292P MLH1 NoYes - ATPaseYessHNPCC(+)NE
R687W MLH1 YesYes - potentialy PMS2 bindingYessHNPCC(+)Yes