The UMD-APC mutations database
Record ID: 4808

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3473_3474delGAp.Arg1158ThrfsX5

wt codonwt aamutant codonmutant aamutational eventmutation type
AGAArgdel2bFs.Stop at 1162Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 3 

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_-3522G03998G03998Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data