The UMD-APC mutations database
Record ID: 2674

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1797C>Ap.Cys599X

wt codonwt aamutant codonmutant aamutational eventmutation type
TGCCysTGAStopC->ATv

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM4 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
10_APC-28---2059PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data