The UMD-APC mutations database
Record ID: 5858

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.5880A>Gp.Pro1960Pro

wt codonwt aamutant codonmutant aamutational eventmutation type
CCAProCCGProA->GTs

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): Hpa II, Msp I
Lost restriction site(s): none

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0.691.00 (non pathogenous)18 (Polymorphism)

Patient and sample data


Sample IDPatient status
---Proband

Clinical data


Symptom

Reference


Reference IDReference
171Unpublished data