The UMD-APC mutations database
Record ID: 5216

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1948G>Tp.Glu650X

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGluTAGStopG->TTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM5 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_-285G06089G06089Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data