The UMD-APC mutations database
Record ID: 4501

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3081T>Ap.Tyr1027X

wt codonwt aamutant codonmutant aamutational eventmutation type
TATTyrTAAStopT->ATv

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 1 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
SO_-2458G01734G01734Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data