The UMD-APC mutations database
Record ID: 3422

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1620dupp.Gln541ThrfsX19

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnins1aFs.Stop at 559

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
37_P10.0141263298947Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data