The UMD-APC mutations database
Record ID: 4102

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1487_1506delinsTGCTGTp.Leu497_Leu497del

wt codonwt aamutant codonmutant aamutational eventmutation type
CTALeuindelsindelsindelsindels

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
7_-4901110341E110323Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data