The UMD-MSH2 mutations database
Record ID: 3215

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2459_2634dupp.Gln879ValfsX21

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnins176aFs.Stop at 899

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
20_20-46714671-01---Relative

Clinical data


Symptom

Reference


Reference IDReference
20Unpublished data