Characteristics of novel missense alterations of unknown significance
| Missense alterations (amino acid substitution) | Gene | Change polarity | Location in functional domain | Absence in general population* | Matched AMS or sHNPCC criteria | Cosegregations with disease |
|---|---|---|---|---|---|---|
| *Alteration not found in any of 100 normal controls. | ||||||
| NE, not examined. | ||||||
| E853A | MSH2 | Yes | ? | Yes | sHNPCC(+) | No |
| I19F | MLH1 | No | Yes - ATPase | Yes | sHNPCC(+) | NE |
| L292P | MLH1 | No | Yes - ATPase | Yes | sHNPCC(+) | NE |
| R687W | MLH1 | Yes | Yes - potentialy PMS2 binding | Yes | sHNPCC(+) | Yes |