The UMD-APC mutations database
Record ID: 3223

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3796G>Tp.Asp1266Tyr

wt codonwt aamutant codonmutant aamutational eventmutation type
GATAspTATTyrG->TTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin degradation domai Yes, non coding strandNo

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0.750.03 (pathogenous)92 (Pathogenous)

Patient and sample data


Sample IDPatient status
33_PSL2695---09-1302Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data