The UMD-MSH2 mutations database
Record ID: 322

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2633_2634delAGp.Glu878AlafsX3

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGludel2bFs.Stop at 880Fr.

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
5_2004041_20050741_AAA622Relative

Clinical data


Symptom

Reference


Reference IDReference
5Unpublished data