The UMD-APC mutations database
Record ID: 4204

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1495C>Tp.Arg499X

wt codonwt aamutant codonmutant aamutational eventmutation type
CGAArgTGAStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM2 NoYes

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_-1111G00396G00396Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data