The UMD-APC mutations database
Record ID: 5321

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1657delTp.Trp553GlyfsX5

wt codonwt aamutant codonmutant aamutational eventmutation type
TGGTrpdel1aFs.Stop at 557Fr.

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
SO_-4882G07319G07319Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data