The UMD-MSH2 mutations database
Record ID: 2992

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1216C>Tp.Arg406X

wt codonwt aamutant codonmutant aamutational eventmutation type
CGAArgTGAStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH3/MSH6 interaction Yes, coding strandYes

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
5_202013457AAH978Relative

Clinical data


Symptom

Reference


Reference IDReference
5Unpublished data