The UMD-MSH2 mutations database
Record ID: 355

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1077_1276dupp.Gly426AspfsX2

wt codonwt aamutant codonmutant aamutational eventmutation type
GGAGlyins200bFs.Stop at 427Fr.

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
6_608231_201001319_S8776Relative

Clinical data


Symptom

Reference


Reference IDReference
6Unpublished data