The UMD-MSH2 mutations database
Record ID: 3250

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2740G>Tp.Glu914X

wt codonwt aamutant codonmutant aamutational eventmutation type
GAAGluTAAStopG->TTv

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

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
8_473919301708-536041Relative

Clinical data


Symptom

Reference


Reference IDReference
8Unpublished data