The UMD-APC mutations database
Record ID: 3804

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4159_4162delTGTAp.Cys1387LeufsX27

wt codonwt aamutant codonmutant aamutational eventmutation type
TGTCysdel4aFs.Stop at 1413Fr.

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
SO_-6835943594Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data