The UMD-APC mutations database
Record ID: 4631

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3471_3474delGAGAp.Glu1157AspfsX7

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGludel4cFs.Stop at 1163Fr.

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_-2819G02675G02675Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data