The UMD-APC mutations database
Record ID: 5838

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1556delTp.Leu519HisfsX4

wt codonwt aamutant codonmutant aamutational eventmutation type
CTALeudel1bFs.Stop at 522Fr.

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

Patient and sample data


Sample IDPatient status
10_APC-201---3071 PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data