The UMD-APC mutations database
Record ID: 5494

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1409_1743delp.Gly471IlefsX19

wt codonwt aamutant codonmutant aamutational eventmutation type
GGGGlydel335bFs.Stop at 489Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM1 

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_-4471ILP0411995E050087Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data