The UMD-APC mutations database
Record ID: 3217

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1621C>Tp.Gln541X

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnTAGStopC->TTs

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

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
33_SAT246---09-987Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data