The UMD-APC mutations database
Record ID: 3089

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.6108T>Ap.Asp2036Glu

wt codonwt aamutant codonmutant aamutational eventmutation type
GATAspGAAGluT->ATv

StructureKey Residue (HCD)Pyrimidin doubletCpG
Axin binding domain 3 NoNo

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)
0.690.36 (non pathogenous)29 (Polymorphism)

Patient and sample data


Sample IDPatient status
20_1876-01---6293Relative

Clinical data


Symptom

Reference


Reference IDReference
20Unpublished data