The UMD-APC mutations database
Record ID: 5104

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1411G>Tp.Gly471X

wt codonwt aamutant codonmutant aamutational eventmutation type
GGAGlyTGAStopG->TTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM1 Yes, non coding strandNo

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_-602G05361G05361Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data