The UMD-MSH2 mutations database
Record ID: 214

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2662delCp.Leu888CysfsX4

wt codonwt aamutant codonmutant aamutational eventmutation type
CTGLeudel1aFs.Stop at 891Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH3/MSH6 interaction 

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
4_C00034_---_415Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data