The UMD-APC mutations database
Record ID: 3092

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4756_4757dupp.Ser1588HisfsX63

wt codonwt aamutant codonmutant aamutational eventmutation type
AAGLysins2cFs.Stop at 1650

StructureKey Residue (HCD)Pyrimidin doubletCpG
Axin binding domain 1 

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
20_2919-01---12822Relative

Clinical data


Symptom

Reference


Reference IDReference
20Unpublished data