The UMD-APC mutations database
Record ID: 5314

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1722dupp.Cys575MetfsX6

wt codonwt aamutant codonmutant aamutational eventmutation type
TGTCysins1aFs.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
SO_2638G07186G07186Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data