The UMD-APC mutations database
Record ID: 2280

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3058dupp.Glu1020GlyfsX9

wt codonwt aamutant codonmutant aamutational eventmutation type
GAAGluins1bFs.Stop at 1028

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 1 

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_21067---21067Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data