The UMD-APC mutations database
Record ID: 3690

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3554_3555delCAp.Thr1185ArgfsX22

wt codonwt aamutant codonmutant aamutational eventmutation type
ACAThrdel2bFs.Stop at 1206Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 4 

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
SO_-41010791079Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data