The UMD-MSH2 mutations database
Record ID: 1322

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.793_2805delp.Ala266LysfsX11

wt codonwt aamutant codonmutant aamutational eventmutation type
GTTValdel2013aInFStop at 276InF

StructureKey Residue (HCD)Pyrimidin doubletCpG
EXO1 stabilization 

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
37_L08.022-E_6099_65379Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data