The UMD-APC mutations database
Record ID: 5706

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1886dupp.Leu629PhefsX5

wt codonwt aamutant codonmutant aamutational eventmutation type
TTALeuins1cFs.Stop at 633

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM4 

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
7_-5813ILP0711861---Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data