The UMD-APC mutations database
Record ID: 4565

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3537_3543delp.Tyr1179X

wt codonwt aamutant codonmutant aamutational eventmutation type
TATTyrdel7cFs.Stop at 1179Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 4 

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_-2577G02135G02135Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data