The UMD-APC mutations database
Record ID: 3979

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1954_1973delp.His652GlufsX15

wt codonwt aamutant codonmutant aamutational eventmutation type
CACHisdel20aFs.Stop at 666Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM5 

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
7_-5939811089E081150Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data