The UMD-APC mutations database
Record ID: 5452

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3444_3447delTGAAp.Glu1149LysfsX15

wt codonwt aamutant codonmutant aamutational eventmutation type
TCTSerdel4cFs.Stop at 1163Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 2 

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
SO_-1760G08820G08820Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data