The UMD-APC mutations database
Record ID: 3293

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1744_1958delp.Glu582AlafsX20

wt codonwt aamutant codonmutant aamutational eventmutation type
GAAGludel215aFs.Stop at 601Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM3 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
37_P04.122624---Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data