The UMD-APC mutations database
Record ID: 2270

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status

wt codonwt aamutant codonmutant aamutational eventmutation type
ACAThrindelsindelsindels

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM2 

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)
0.94 - 65 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
4_28675---28675Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data