The UMD-MSH2 mutations database
Record ID: 3154

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2647dupp.Ile883AsnfsX16

wt codonwt aamutant codonmutant aamutational eventmutation type
ATTIleins1bFs.Stop at 898

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_13067305334509Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data