The UMD-APC mutations database
Record ID: 3915

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1875_1878delGACAp.Asn627LeufsX2

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlndel4cFs.Stop at 628Fr.

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
SO_-2879417941Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data