The UMD-APC mutations database
Record ID: 4194

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1435insTTTAp.Leu479PhefsX7

wt codonwt aamutant codonmutant aamutational eventmutation type
TTGLeuins4aFs.Stop at 485

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM1 

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_-1117G00354G00354Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data