The UMD-MSH2 mutations database
Record ID: 1389

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2014_2033delp.Met672TyrfsX20

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetdel20aFs.Stop at 691Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ATP binding 

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
41_HNPCC109_HNPCC109001_-Relative

Clinical data


Symptom

Reference


Reference IDReference
41Unpublished data