The UMD-APC mutations database
Record ID: 2576

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1706dupp.Lys570GlufsX11

wt codonwt aamutant codonmutant aamutational eventmutation type
GTGValins1cFs.Stop at 580

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM3 

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
10_APC-015---78PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data