The UMD-APC mutations database
Record ID: 3109

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.5879C>Tp.Pro1960Leu

wt codonwt aamutant codonmutant aamutational eventmutation type
CCAProCTALeuC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin degradation domai Yes, 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)
0.690.02 (pathogenous)69 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
33_PSL2575---09-916Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data