The UMD-APC mutations database
Record ID: 5516

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4151_4161delp.Phe1384TyrfsX7

wt codonwt aamutant codonmutant aamutational eventmutation type
TTTPhedel11bFs.Stop at 1390Fr.

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
7_-5958ILP0510705E050597Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data