The UMD-APC mutations database
Record ID: 2659

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1370C>Gp.Ser457X

wt codonwt aamutant codonmutant aamutational eventmutation type
TCASerTGAStopC->GTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM1 Yes, 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
10_APC-132---291PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data