The UMD-MSH2 mutations database
Record ID: 1369

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1189C>Tp.Gln397X

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnTAAStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
EXO1 stabilization NoNo

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
41_HNPCC062_HNPCC062001_-Relative

Clinical data


Symptom

Reference


Reference IDReference
41Unpublished data