The UMD-APC mutations database
Record ID: 2210

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3827_3830delCATTp.Ser1276TyrfsX11

wt codonwt aamutant codonmutant aamutational eventmutation type
TCASerdel4bFs.Stop at 1286Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin degradation domai 

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_41830---41830Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data